PIDB
MCID: PCK003
MIFTS: 63

Pick Disease of Brain (PIDB)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Pick Disease of Brain

MalaCards integrated aliases for Pick Disease of Brain:

Name: Pick Disease of Brain 57 12
Pick's Disease 12 54 29 6 15
Pick Disease 57 12 75 13 17
Pick Disease of the Brain 74 44 72
Lobar Atrophy of Brain 57 12 74
Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions 57 74
Dementia in Pick's Disease 12
Pick's Disease of Brain 40
Picks Disease 55
Pidb 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic overlap with frontotemporal dementia ()


HPO:

32
pick disease of brain:
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:11870
OMIM 57 172700
ICD9CM 35 331.11
MeSH 44 D020774
NCIt 50 C85008
SNOMED-CT 68 13092008
ICD10 33 F02.0 G31.01
MedGen 42 C0236642
UMLS 72 C0236642

Summaries for Pick Disease of Brain

NINDS : 54 Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Pick’s disease, the name and classification of FTD has been a topic of discussion for over a century.  The current designation of the syndrome groups together Pick’s disease, primary progressive aphasia, and semantic dementia as FTD.  Some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to FTD and calling the group Pick Complex.  These designations will continue to be debated.  As it is defined today, the symptoms of FTD fall into two clinical patterns that involve either (1) changes in behavior, or (2) problems with language.  The first type features behavior that can be either impulsive (disinhibited) or bored and listless (apathetic) and includes inappropriate social behavior; lack of social tact; lack of empathy; distractability; loss of insight into the behaviors of oneself and others; an increased interest in sex; changes in food preferences; agitation or, conversely, blunted emotions; neglect of personal hygiene; repetitive or compulsive behavior, and decreased energy and motivation.  The second type primarily features symptoms of language disturbance, including difficulty making or understanding speech, often in conjunction with the behavioral type’s symptoms.  Spatial skills and memory remain intact.  There is a strong genetic component to the disease; FTD often runs in families.

MalaCards based summary : Pick Disease of Brain, also known as pick's disease, is related to behavioral variant of frontotemporal dementia and frontotemporal lobar degeneration with tdp43 inclusions, grn-related, and has symptoms including myoclonus and personality changes. An important gene associated with Pick Disease of Brain is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are Neuroscience and Microglia Activation During Neuroinflammation: Overview. The drugs Memantine and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and cortex, and related phenotypes are stereotypy and irritability

OMIM : 57 Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (601104), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. (172700)

UniProtKB/Swiss-Prot : 74 Pick disease of the brain: A rare form of dementia pathologically defined by severe atrophy, neuronal loss and gliosis. It is characterized by the occurrence of tau-positive inclusions, swollen neurons (Pick cells) and argentophilic neuronal inclusions known as Pick bodies that disproportionally affect the frontal and temporal cortical regions. Clinical features include aphasia, apraxia, confusion, anomia, memory loss and personality deterioration.

Wikipedia : 75 Pick's disease is a specific pathology that is one of the causes of frontotemporal lobar degeneration.... more...

Related Diseases for Pick Disease of Brain

Diseases related to Pick Disease of Brain via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 353)
# Related Disease Score Top Affiliating Genes
1 behavioral variant of frontotemporal dementia 32.7 SQSTM1 PSEN1 MAPT GRN
2 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 32.5 RPS27A MAPT GRN
3 supranuclear palsy, progressive, 1 31.1 SNCA RPS27A MAPT GRN CHAT APP
4 apraxia 30.9 PSEN1 MAPT GRN
5 primary lateral sclerosis, adult, 1 30.7 SNCA MAPT
6 tremor 30.5 SNCA MAPT FUS
7 corticobasal degeneration 30.4 TARDBP RPS27A MAPT CRYAB
8 prosopagnosia 30.4 PSEN1 GRN
9 progressive non-fluent aphasia 30.3 PSEN1 MAPT GRN
10 movement disease 30.3 SNCA MAPT HTT
11 kluver-bucy syndrome 30.2 PSEN1 MAPT APP
12 kohlschutter-tonz syndrome 30.2 PSEN1 MAPT APP APOE
13 creutzfeldt-jakob disease 30.1 MAPT CRYAB APOE
14 huntington disease 30.1 SQSTM1 SNCA HTT CHAT
15 nominal aphasia 30.1 TARDBP PSEN1 MAPT GRN
16 binswanger's disease 30.0 MAPT CHGA APP APOE
17 multiple system atrophy 1 30.0 SQSTM1 SNCA RPS27A MAPT
18 cerebral amyloid angiopathy, cst3-related 29.9 PSEN1 MAPT APP APOE
19 semantic dementia 29.8 TARDBP RPS27A PSEN1 MAPT GRN APOE
20 agraphia 29.8 TARDBP PSEN1 MAPT GRN
21 amyloidosis 29.8 SNCA PSEN1 APP APOE
22 vascular dementia 29.8 PSEN1 MAPT CHAT APP APOE
23 leukoencephalopathy, hereditary diffuse, with spheroids 29.4 SNCA RPS27A MAPT CRYAB APP
24 frontotemporal dementia 29.2 TARDBP SQSTM1 SNCA RPS27A PSEN1 MAPT
25 parkinson disease, late-onset 29.0 SNCA MAPT HTT CHAT APP APOE
26 aphasia 28.8 SNCA PSEN1 MAPT GRN APP APOE
27 dementia, lewy body 28.4 TARDBP SNCA RPS27A PSEN1 MAPT GRN
28 alzheimer disease 28.1 TARDBP SQSTM1 SNCA PSEN1 MAPT GRN
29 motor neuron disease 27.7 TARDBP SQSTM1 SNCA RPS27A MAPT GRN
30 dementia 27.6 TARDBP SQSTM1 SNCA PSEN1 MAPT GRN
31 amyotrophic lateral sclerosis 1 26.2 TARDBP SQSTM1 SNCA RPS27A PSEN1 MAPT
32 niemann-pick disease, type c1 13.0
33 niemann-pick disease, type a 12.9
34 niemann-pick disease 12.9
35 niemann-pick disease, type b 12.9
36 niemann-pick disease, type c2 12.8
37 niemann-pick disease type c, juvenile neurologic onset 12.3
38 niemann-pick disease type c, severe perinatal form 12.2
39 niemann-pick disease type c, late infantile neurologic onset 12.2
40 niemann-pick disease type c, severe early infantile neurologic onset 12.2
41 niemann-pick disease type c, adult neurologic onset 12.2
42 acid sphingomyelinase deficiency 11.7
43 lysosomal storage disease 11.5
44 sphingolipidosis 11.5
45 sea-blue histiocyte disease 11.5
46 frontotemporal dementia with parkinsonism-17 11.3
47 simultanagnosia 10.6 MAPT APOE
48 posterior cortical atrophy 10.6 MAPT APOE
49 splenomegaly 10.6
50 alzheimer disease 4 10.6 PSEN1 APOE

Graphical network of the top 20 diseases related to Pick Disease of Brain:



Diseases related to Pick Disease of Brain

Symptoms & Phenotypes for Pick Disease of Brain

Human phenotypes related to Pick Disease of Brain:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 stereotypy 32 HP:0000733
2 irritability 32 HP:0000737
3 polyphagia 32 HP:0002591
4 language impairment 32 HP:0002463
5 disinhibition 32 HP:0000734
6 neuronal loss in central nervous system 32 HP:0002529
7 gliosis 32 HP:0002171
8 apathy 32 HP:0000741
9 personality changes 32 HP:0000751
10 frontotemporal dementia 32 HP:0002145
11 echolalia 32 HP:0010529
12 perseveration 32 HP:0030223
13 hyperorality 32 HP:0000710
14 emotional blunting 32 HP:0030213
15 primitive reflex 32 HP:0002476
16 inappropriate laughter 32 HP:0000748

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
irritability
disinhibition
apathy
personality changes
echolalia
more
Neurologic Central Nervous System:
language impairment
frontotemporal dementia
neuronal loss
frontotemporal lobar atrophy with 'knife-edge' distinction
atrophy may be more severe in the left hemisphere
more

Clinical features from OMIM:

172700

UMLS symptoms related to Pick Disease of Brain:


myoclonus, personality changes

MGI Mouse Phenotypes related to Pick Disease of Brain:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 APOE APP CHAT CLU CRYAB GRN
2 homeostasis/metabolism MP:0005376 10.29 APOE APP CD59 CHAT CHGA CLU
3 cellular MP:0005384 10.25 APOE APP CD59 CRYAB GRN HTT
4 growth/size/body region MP:0005378 10.24 APOE APP CHAT CHGA GRN HTT
5 mortality/aging MP:0010768 10.21 APOE APP CD59 CHAT CHGA GRN
6 cardiovascular system MP:0005385 10.18 APOE APP CHAT CHGA CLU HTT
7 nervous system MP:0003631 10.18 APOE APP CHAT CHGA CLU GRN
8 immune system MP:0005387 10.16 APOE APP CLU GRN HTT MAPT
9 muscle MP:0005369 10.06 APOE APP CHAT CHGA CLU CRYAB
10 no phenotypic analysis MP:0003012 9.92 APOE APP CHGA GRN HTT MAPT
11 reproductive system MP:0005389 9.81 APOE APP CD59 CHAT CHGA GRN
12 renal/urinary system MP:0005367 9.8 APOE CD59 CHGA CLU MAPT PSEN1
13 taste/olfaction MP:0005394 9.26 APOE HTT MAPT SNCA
14 vision/eye MP:0005391 9.17 APOE CHAT CRYAB GRN MAPT PSEN1

Drugs & Therapeutics for Pick Disease of Brain

Drugs for Pick Disease of Brain (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 115)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Memantine Approved, Investigational Phase 4 19982-08-2 4054
2
Citalopram Approved Phase 4 59729-33-8 2771
3
Miglustat Approved Phase 4 72599-27-0 51634
4
Corticosterone Experimental Phase 4 50-22-6 5753
5
1-Deoxynojirimycin Investigational Phase 4 19130-96-2 1374
6 Excitatory Amino Acid Antagonists Phase 4
7 Excitatory Amino Acids Phase 4
8 Antidepressive Agents Phase 4
9 Psychotropic Drugs Phase 4
10 Serotonin Uptake Inhibitors Phase 4
11 Antidepressive Agents, Second-Generation Phase 4
12 Neurotransmitter Uptake Inhibitors Phase 4
13 Serotonin Agents Phase 4
14 Fluorodeoxyglucose F18 Phase 4
15 Anti-Inflammatory Agents Phase 4
16 Glycoside Hydrolase Inhibitors Phase 4
17 Cardiac Glycosides Phase 4
18 Anti-HIV Agents Phase 4
19 Hypoglycemic Agents Phase 4
20 Anti-Retroviral Agents Phase 4
21
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
22
tannic acid Approved Phase 3 1401-55-4
23
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
24
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
25
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
26
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
27
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
28
Atorvastatin Approved Phase 3 134523-00-5 60823
29
Methylene blue Approved, Investigational Phase 3 61-73-4
30
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
31 Prednisolone acetate Phase 2, Phase 3
32 Methylprednisolone Acetate Phase 2, Phase 3
33 Antilymphocyte Serum Phase 2, Phase 3
34 Pharmaceutical Solutions Phase 2, Phase 3
35 carnitine Phase 3
36 Lipid Regulating Agents Phase 3
37 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
38 Hypolipidemic Agents Phase 3
39 Anticholesteremic Agents Phase 3
40 Antimetabolites Phase 3
41 Liver Extracts Phase 2, Phase 3
42
Galantamine Approved Phase 2 357-70-0 9651
43
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
44
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
45
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
46
Lithium carbonate Approved Phase 1, Phase 2 554-13-2
47
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
48
Busulfan Approved, Investigational Phase 2 55-98-1 2478
49
alemtuzumab Approved, Investigational Phase 2 216503-57-0
50
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750

Interventional clinical trials:

(show top 50) (show all 152)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, Multi-Center, Double-Blind, 26 Week, Placebo-Controlled Trial of Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
2 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
3 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
4 Brain Amyloid Imaging With Pittsburgh Compound B in Normal Aging, Mild Cognitive Impairment, and Dementia Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
5 A Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese Subjects Not yet recruiting NCT03910621 Phase 4 Miglustat
6 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
7 An Open Label Pilot Study of the Effects of Memantine Administration on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
8 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
9 A Double-Blind, Placebo-Controlled, Randomized, Parallel Group, 12-Month Safety and Efficacy Trial of TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) Completed NCT01626378 Phase 3 TRx0237;Placebo
10 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
11 An Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 (Sebelipase Alfa) in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Completed NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
12 The Role of Palliative Care Interventions to Reduce Circadian Rhythm Disorders in Persons With Dementia: The Healthy Patterns Study Recruiting NCT03682185 Phase 3
13 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
14 A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270;Sham Procedure Control
15 Arimoclomol Prospective Doubleblind, Randomised, Placebo-controlled Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
16 A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
17 Estudio clínico Fase III Para Evaluar la Eficacia terapéutica en Pacientes Mexicanos Con Dislipidemia Mediante el Uso vía Oral de L-Carnitina + Atorvastatina Comparado Con Atorvastatina Active, not recruiting NCT03696940 Phase 3 L-Carnitine 500Mg Oral Tablet + Atorvastatin 10 mg;Atorvastatin 10mg
18 A Phase 2b/3 Open-label Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 Disease Previously Treated Under Protocol VTS301 Not yet recruiting NCT03879655 Phase 2, Phase 3 VTS-270
19 An Open-Label, Extension Study of the Effects of TRx0237 in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Terminated NCT02245568 Phase 3 TRx0237
20 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
21 An Open Label Multicenter Extension Study to Evaluate the Long-term Efficacy and Safety of SBC-102 in Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
22 A Randomized, Double-Blind, Placebo-Controlled, Dose-Escalating, Phase 2a Safety, Tolerability, and Pharmacodynamic Study of Two Doses of an Histone Deacetylase Inhibitor (FRM-0334) in Subjects With Prodromal to Moderate Frontotemporal Dementia With Granulin Mutation Unknown status NCT02149160 Phase 2 FRM-0334;Placebo
23 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
24 A Study Evaluating the Imaging Characteristics of Florbetapir 18F (18F-AV-45) in Patients With Frontotemporal Dementia Compared to Patients With Alzheimer's Disease and Normal Controls. Completed NCT01890343 Phase 2 florbetapir 18F;18F-FDG
25 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
26 An Open Pilot Study to Evaluate the Safety and Efficacy of Galantamine in the Treatment of Pick's Disease/Frontotemporal Dementia /Pick Complex Completed NCT00416169 Phase 2 galantamine hydrobromide
27 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
28 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
29 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
30 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
31 Double-blind, Parallel Group, Placebo-controlled Trial of the Efficacy and Tolerability of Memantine (20 mg) in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
32 A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
33 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
34 A Phase 2 Clinical Trial of Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon
35 a Single-center, Prospective, Open, and Non-randomized Case-control Study of Lithium Carbonate Effect on Niemann Disease C1 Type Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
36 Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. Recruiting NCT03759639 Phase 2 IB1001
37 Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1 Recruiting NCT03887533 Phase 1, Phase 2 VTS-270
38 Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
39 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
40 A Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-β-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical Outcomes Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
41 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
42 A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Olipudase Alfa in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
43 A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
44 A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
45 An Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) Disease Not yet recruiting NCT03687476 Phase 2 VTS-270
46 A Phase 2, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AL001 in Heterozygous Carriers of Granulin or C9ORF72 Mutations Causative of Frontotemporal Dementia Not yet recruiting NCT03987295 Phase 2 AL001
47 Treating Primary Progressive Aphasia (PPA) and Elucidating Neurodegeneration in the Language Network Using Transcranial Direct Current Stimulation (tDCS) Not yet recruiting NCT04046991 Phase 2
48 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
49 F 18 T807 Tau PET Imaging of Frontotemporal Dementia Withdrawn NCT02707978 Phase 2 F 18 T807
50 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation for the Management, Control and Treatment of Frontotemporal Dementia (Pick's Disease) Unknown status NCT00674960 Phase 1

Search NIH Clinical Center for Pick Disease of Brain

Cochrane evidence based reviews: pick disease of the brain

Genetic Tests for Pick Disease of Brain

Genetic tests related to Pick Disease of Brain:

# Genetic test Affiliating Genes
1 Pick's Disease 29 MAPT PSEN1

Anatomical Context for Pick Disease of Brain

MalaCards organs/tissues related to Pick Disease of Brain:

41
Brain, Liver, Cortex, Testes, Bone, Temporal Lobe, Bone Marrow

Publications for Pick Disease of Brain

Articles related to Pick Disease of Brain:

(show top 50) (show all 1067)
# Title Authors PMID Year
1
Pick's disease is associated with mutations in the tau gene. 9 38 8 71
11117542 2000
2
Pick's disease associated with the novel Tau gene mutation K369I. 38 8 71
11601501 2001
3
Analysis of tau haplotypes in Pick's disease. 9 38 8
12177383 2002
4
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. 9 38 71
11891833 2002
5
Transgenic mouse models of tauopathies: prospects for animal models of Pick's disease. 9 38 8
11402147 2001
6
Structures of filaments from Pick's disease reveal a novel tau protein fold. 38 8
30158706 2018
7
A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. 38 8
15122701 2004
8
Pick Complex: an integrative approach to frontotemporal dementia: primary progressive aphasia, corticobasal degeneration, and progressive supranuclear palsy. 38 8
14629785 2003
9
Sporadic Pick's disease: a tauopathy characterized by a spectrum of pathological tau isoforms in gray and white matter. 38 8
12112079 2002
10
Neuropathology of Pick's disease. 38 8
11402145 2001
11
Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. 38 71
10604746 1999
12
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 38 8
9641683 1998
13
Allele epsilon 4 of apolipoprotein E shows a dose effect on age at onset of Pick disease. 9 8
7498406 1995
14
Pick's disease immunohistochemistry: new alterations and Alzheimer's disease comparisons. 38 8
7610763 1995
15
Involvement of clathrin light chains in the pathology of Pick's disease; implication for impairment of axonal transport. 38 8
7533277 1994
16
Familial Pick's disease and dementia in frontal lobe degeneration of non-Alzheimer type are not variants of prion disease. 38 8
8006666 1994
17
Frontal lobe degeneration of non-Alzheimer type. I. Neuropathology. 38 8
3689053 1987
18
Frontal lobe degeneration of non-Alzheimer type. II. Clinical picture and differential diagnosis. 38 8
3689054 1987
19
Hereditary dysphasic dementia and the Pick-Alzheimer spectrum. 38 8
6497355 1984
20
Classic and generalized variants of Pick's disease: a clinicopathological, ultrastructural, and immunocytochemical comparative study. 38 8
6093681 1984
21
Hereditary Pick's disease: second re-examination of the large family and discussion of other hereditary cases, with particular reference to electroencephalography, a computerized tomography. 38 8
7104662 1982
22
Re-examination of a family with Pick's disease. 38 8
14442619 1959
23
Clinical phenotypes in autopsy-confirmed Pick disease. 8
21242493 2011
24
Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies. 8
16432153 2006
25
MAPT-Related Disorders 71
20301678 2000
26
Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein. 71
9450754 1998
27
Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. 8
9029063 1997
28
Phosphorylation of soluble tau differs in Pick's disease and Alzheimer's disease brains. 9 38
19693433 2009
29
Cytoplasmic inclusions of TDP-43 in neurodegenerative diseases: a potential role for caspases. 9 38
19554515 2009
30
Transmission and spreading of tauopathy in transgenic mouse brain. 9 38
19503072 2009
31
[The genetics of dementias. Part 1: Molecular basis of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)]. 9 38
19535823 2009
32
Association between a genetic variant of the alpha-7 nicotinic acetylcholine receptor subunit and four types of dementia. 9 38
19641318 2009
33
Tau oligomerization: a role for tau aggregation intermediates linked to neurodegeneration. 9 38
19075586 2008
34
Ultrastructural localization of TDP-43 in filamentous neuronal inclusions in various neurodegenerative diseases. 9 38
18607609 2008
35
Detection of filamentous tau inclusions by the fluorescent Congo red derivative FSB [(trans,trans)-1-fluoro-2,5-bis(3-hydroxycarbonyl-4-hydroxy)styrylbenzene]. 9 38
18291106 2008
36
Phosphorylation and cleavage of tau in non-AD tauopathies. 9 38
17357802 2007
37
Relation of hippocampal phospho-SAPK/JNK granules in Alzheimer's disease and tauopathies to granulovacuolar degeneration bodies. 9 38
17089132 2007
38
Investigation of laser-microdissected inclusion bodies. 9 38
17586264 2007
39
Early frontotemporal dementia targets neurons unique to apes and humans. 9 38
17187353 2006
40
Sequential phosphorylation of tau protein by cAMP-dependent protein kinase and SAPK4/p38delta or JNK2 in the presence of heparin generates the AT100 epitope. 9 38
16987243 2006
41
Cellular tau pathology and immunohistochemical study of tau isoforms in sporadic tauopathies. 9 38
17080726 2006
42
Biochemistry and molecular biology of tauopathies. 9 38
17080729 2006
43
Abnormal alpha-synuclein solubility, aggregation and nitration in the frontal cortex in Pick's disease. 9 38
16516382 2006
44
Expression of transcription factors c-Fos, c-Jun, CREB-1 and ATF-2, and caspase-3 in relation with abnormal tau deposits in Pick's disease. 9 38
16496165 2006
45
Three-repeat Tau 69 is a major tau isoform in laser-microdissected Pick bodies. 9 38
16690493 2006
46
Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology. 9 38
16014652 2005
47
Caspase-cleaved tau accumulation in neurodegenerative diseases associated with tau and alpha-synuclein pathology. 9 38
15986225 2005
48
BetaII-tubulin and phospho-tau aggregates in Alzheimer's disease and Pick's disease. 9 38
16006664 2005
49
Pick bodies in a family with presenilin-1 Alzheimer's disease. 9 38
15622541 2005
50
Current advances on different kinases involved in tau phosphorylation, and implications in Alzheimer's disease and tauopathies. 9 38
15977985 2005

Variations for Pick Disease of Brain

ClinVar genetic disease variations for Pick Disease of Brain:

6 (show all 42)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MAPT NM_016835.4(MAPT): c.1853C> T (p.Pro618Leu) single nucleotide variant Pathogenic rs63751273 17:44087755-44087755 17:46010389-46010389
2 MAPT NM_016835.4(MAPT): c.2167C> T (p.Arg723Trp) single nucleotide variant Pathogenic rs63750424 17:44101427-44101427 17:46024061-46024061
3 MAPT NM_016835.4(MAPT): c.1788T> G (p.Asn596Lys) single nucleotide variant Pathogenic rs63750756 17:44087690-44087690 17:46010324-46010324
4 MAPT NM_016835.4(MAPT): c.1721A> C (p.Lys574Thr) single nucleotide variant Pathogenic rs63750129 17:44073978-44073978 17:45996612-45996612
5 MAPT NM_016835.4(MAPT): c.2057A> T (p.Lys686Ile) single nucleotide variant Pathogenic rs63751264 17:44096092-44096092 17:46018726-46018726
6 MAPT NM_016835.4(MAPT): c.1910C> T (p.Ser637Phe) single nucleotide variant Pathogenic rs63750635 17:44091652-44091652 17:46014286-46014286
7 PSEN1 NM_000021.4(PSEN1): c.488A> G (p.His163Arg) single nucleotide variant Pathogenic rs63750590 14:73653568-73653568 14:73186860-73186860
8 PSEN1 NM_000021.4(PSEN1): c.737C> A (p.Ala246Glu) single nucleotide variant Pathogenic rs63750526 14:73659540-73659540 14:73192832-73192832
9 PSEN1 NM_000021.4(PSEN1): c.1229G> A (p.Cys410Tyr) single nucleotide variant Pathogenic rs661 14:73683933-73683933 14:73217225-73217225
10 PSEN1 NM_000021.4(PSEN1): c.839A> C (p.Glu280Ala) single nucleotide variant Pathogenic rs63750231 14:73664808-73664808 14:73198100-73198100
11 PSEN1 NM_000021.4(PSEN1): c.617G> C (p.Gly206Ala) single nucleotide variant Pathogenic rs63750082 14:73659420-73659420 14:73192712-73192712
12 PSEN1 NM_000021.4(PSEN1): c.548G> T (p.Gly183Val) single nucleotide variant Pathogenic rs63751068 14:73653628-73653628 14:73186920-73186920
13 PSEN1 NM_000021.4(PSEN1): c.1292C> A (p.Ala431Glu) single nucleotide variant Pathogenic rs63750083 14:73685885-73685885 14:73219177-73219177
14 PSEN1 NM_000021.4(PSEN1): c.236C> T (p.Ala79Val) single nucleotide variant Pathogenic rs63749824 14:73637653-73637653 14:73170945-73170945
15 PSEN1 NM_000021.4(PSEN1): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic rs63750900 14:73664775-73664775 14:73198067-73198067
16 PSEN1 NM_000021.4(PSEN1): c.344A> G (p.Tyr115Cys) single nucleotide variant Pathogenic rs63750450 14:73640279-73640279 14:73173571-73173571
17 PSEN1 NM_000021.4(PSEN1): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs63750053 14:73659429-73659429 14:73192721-73192721
18 PSEN1 NM_000021.4(PSEN1): c.869-2A> T single nucleotide variant Pathogenic 14:73673092-73673092 14:73206384-73206384
19 PSEN1 NM_000021.4(PSEN1): c.347C> A (p.Thr116Asn) single nucleotide variant Pathogenic 14:73640282-73640282 14:73173574-73173574
20 PSEN1 NM_000021.4(PSEN1): c.404A> G (p.Asn135Ser) single nucleotide variant Pathogenic/Likely pathogenic rs63751278 14:73640339-73640339 14:73173631-73173631
21 PSEN1 NM_000021.4(PSEN1): c.697A> G (p.Met233Val) single nucleotide variant Pathogenic/Likely pathogenic rs63751287 14:73659500-73659500 14:73192792-73192792
22 PSEN1 NM_000021.4(PSEN1): c.691G> A (p.Ala231Thr) single nucleotide variant Likely pathogenic rs63749836 14:73659494-73659494 14:73192786-73192786
23 PSEN1 NM_000021.4(PSEN1): c.1276G> C (p.Ala426Pro) single nucleotide variant Likely pathogenic rs63751223 14:73685869-73685869 14:73219161-73219161
24 MAPT NM_016835.4(MAPT): c.2116G> A (p.Gly706Arg) single nucleotide variant Likely pathogenic rs63750512 17:44101376-44101376 17:46024010-46024010
25 PSEN1 NM_000021.4(PSEN1): c.626G> A (p.Gly209Glu) single nucleotide variant Likely pathogenic 14:73659429-73659429 14:73192721-73192721
26 PSEN1 NM_000021.4(PSEN1): c.1225G> A (p.Ala409Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs63750227 14:73683929-73683929 14:73217221-73217221
27 MAPT NM_016835.4(MAPT): c.623del (p.Gly208fs) deletion Uncertain significance rs773149360 17:44060793-44060793 17:45983427-45983427
28 PSEN1 NM_000021.4(PSEN1): c.401T> G (p.Leu134Arg) single nucleotide variant Uncertain significance 14:73640336-73640336 14:73173628-73173628
29 PSEN1 NM_000021.4(PSEN1): c.622G> T (p.Val208Leu) single nucleotide variant Uncertain significance 14:73659425-73659425 14:73192717-73192717
30 PSEN1 NM_000021.4(PSEN1): c.1148T> G (p.Leu383Trp) single nucleotide variant Uncertain significance 14:73683852-73683852 14:73217144-73217144
31 MAPT NM_016835.4(MAPT): c.664C> A (p.Arg222Ser) single nucleotide variant Uncertain significance 17:44060834-44060834 17:45983468-45983468
32 PSEN1 NM_000021.4(PSEN1): c.532T> C (p.Ser178Pro) single nucleotide variant Uncertain significance rs63750155 14:73653612-73653612 14:73186904-73186904
33 PSEN1 NM_000021.4(PSEN1): c.104G> A (p.Arg35Gln) single nucleotide variant Uncertain significance rs63750592 14:73637521-73637521 14:73170813-73170813
34 MAPT NM_016835.4(MAPT): c.890C> T (p.Ala297Val) single nucleotide variant Uncertain significance rs377402921 17:44061060-44061060 17:45983694-45983694
35 MAPT NM_016835.4(MAPT): c.47G> T (p.Gly16Val) single nucleotide variant Uncertain significance rs755131800 17:44039750-44039750 17:45962384-45962384
36 PSEN1 NM_000021.4(PSEN1): c.659G> A (p.Arg220Gln) single nucleotide variant Uncertain significance 14:73659462-73659462 14:73192754-73192754
37 PSEN1 NM_000021.4(PSEN1): c.907C> G (p.Pro303Ala) single nucleotide variant Uncertain significance 14:73673132-73673132 14:73206424-73206424
38 PSEN1 NM_000021.4(PSEN1): c.1078G> A (p.Ala360Thr) single nucleotide variant Uncertain significance 14:73678599-73678599 14:73211891-73211891
39 PSEN1 NM_000021.4(PSEN1): c.1369A> G (p.Met457Val) single nucleotide variant Uncertain significance 14:73685962-73685962 14:73219254-73219254
40 PSEN1 NM_000021.3(PSEN1): c.-296C> T single nucleotide variant Benign/Likely benign rs1800839 14:73603131-73603131 14:73136423-73136423
41 PSEN1 NM_000021.4(PSEN1): c.953A> G (p.Glu318Gly) single nucleotide variant Benign/Likely benign rs17125721 14:73673178-73673178 14:73206470-73206470
42 PSEN1 NM_000021.3(PSEN1): c.-528C> G single nucleotide variant Benign rs34086577 14:73602899-73602899 14:73136191-73136191

UniProtKB/Swiss-Prot genetic disease variations for Pick Disease of Brain:

74
# Symbol AA change Variation ID SNP ID
1 MAPT p.Lys574Thr VAR_010344 rs63750129
2 MAPT p.Gly706Arg VAR_010352 rs63750512
3 MAPT p.Ser637Phe VAR_019665 rs63750635
4 MAPT p.Lys686Ile VAR_019668 rs63751264

Expression for Pick Disease of Brain

Search GEO for disease gene expression data for Pick Disease of Brain.

Pathways for Pick Disease of Brain

GO Terms for Pick Disease of Brain

Cellular components related to Pick Disease of Brain according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.98 SQSTM1 PSEN1 CLU CHGA APP
2 cell surface GO:0009986 9.97 PSEN1 CRYAB CLU CD59 APP
3 dendrite GO:0030425 9.89 PSEN1 MAPT HTT FUS APOE
4 neuronal cell body GO:0043025 9.85 SNCA PSEN1 MAPT FUS APOE
5 perinuclear region of cytoplasm GO:0048471 9.85 SNCA HTT FUS CLU CHGA APP
6 rough endoplasmic reticulum GO:0005791 9.7 SNCA PSEN1 APP
7 dendritic spine GO:0043197 9.62 MAPT FUS CRYAB APP
8 growth cone GO:0030426 9.56 SNCA PSEN1 MAPT APP
9 ciliary rootlet GO:0035253 9.55 PSEN1 APP
10 main axon GO:0044304 9.48 MAPT APP
11 neurofibrillary tangle GO:0097418 9.43 MAPT CLU
12 chromaffin granule GO:0042583 9.16 CLU CHGA
13 inclusion body GO:0016234 9.13 SQSTM1 SNCA HTT
14 axon GO:0030424 9.1 SNCA PSEN1 MAPT HTT CRYAB APP
15 nucleus GO:0005634 10.37 TARDBP SQSTM1 SNCA RPS27A PSEN1 MAPT
16 cytoplasm GO:0005737 10.25 TARDBP SQSTM1 SNCA RPS27A PSEN1 MAPT
17 extracellular region GO:0005576 10.19 SNCA MAPT GRN CLU CHGA CD59
18 extracellular exosome GO:0070062 10.17 SQSTM1 RPS27A GRN CRYAB CLU CD59
19 extracellular space GO:0005615 10.11 SNCA RPS27A GRN CLU CHGA CD59
20 Golgi apparatus GO:0005794 10.08 SNCA PSEN1 HTT CRYAB CLU APP

Biological processes related to Pick Disease of Brain according to GeneCards Suite gene sharing:

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.89 SQSTM1 SNCA RPS27A PSEN1 HTT
2 response to oxidative stress GO:0006979 9.85 PSEN1 APP APOE
3 negative regulation of protein phosphorylation GO:0001933 9.77 TARDBP SNCA PSEN1
4 negative regulation of gene expression GO:0010629 9.77 TARDBP MAPT CRYAB APP APOE
5 negative regulation of neuron death GO:1901215 9.74 SNCA CHGA APOE
6 cellular protein metabolic process GO:0044267 9.72 SNCA RPS27A PSEN1 APP APOE
7 regulation of protein binding GO:0043393 9.68 PSEN1 APP
8 positive regulation of dendritic spine development GO:0060999 9.68 PSEN1 APOE
9 regulation of long-term neuronal synaptic plasticity GO:0048169 9.67 SNCA APP
10 response to lead ion GO:0010288 9.67 MAPT APP
11 regulation of neuronal synaptic plasticity GO:0048168 9.66 SNCA APOE
12 regulation of neuron death GO:1901214 9.66 SNCA CLU
13 reverse cholesterol transport GO:0043691 9.65 CLU APOE
14 positive regulation of long-term synaptic potentiation GO:1900273 9.65 SQSTM1 APP
15 positive regulation of receptor recycling GO:0001921 9.65 SNCA PSEN1
16 positive regulation of neuron death GO:1901216 9.65 SNCA MAPT CLU
17 supramolecular fiber organization GO:0097435 9.64 SNCA MAPT
18 virion assembly GO:0019068 9.63 RPS27A APOE
19 amyloid precursor protein metabolic process GO:0042982 9.63 PSEN1 APOE
20 positive regulation of amyloid-beta formation GO:1902004 9.62 CLU APP
21 neuron projection maintenance GO:1990535 9.62 PSEN1 APP
22 negative regulation of long-term synaptic potentiation GO:1900272 9.61 APP APOE
23 negative regulation of amyloid-beta formation GO:1902430 9.61 CLU APOE
24 amyloid fibril formation GO:1990000 9.59 MAPT APP
25 negative regulation of protein homooligomerization GO:0032463 9.58 CRYAB CLU
26 modulation of age-related behavioral decline GO:0090647 9.58 PSEN1 APP
27 protein import GO:0017038 9.56 CLU APOE
28 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.55 PSEN1 APP
29 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.52 PSEN1 APP
30 negative regulation of amyloid fibril formation GO:1905907 9.51 CRYAB CLU
31 astrocyte activation involved in immune response GO:0002265 9.46 PSEN1 APP
32 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.43 PSEN1 APP
33 microglial cell activation GO:0001774 9.43 SNCA MAPT CLU
34 regulation of amyloid-beta clearance GO:1900221 9.4 CLU APOE
35 astrocyte activation GO:0048143 9.33 PSEN1 MAPT APP
36 synapse organization GO:0050808 9.26 SNCA PSEN1 MAPT APP
37 positive regulation of amyloid fibril formation GO:1905908 8.92 PSEN1 CLU APP APOE
38 negative regulation of apoptotic process GO:0043066 10.04 SQSTM1 SNCA RPS27A PSEN1 CRYAB
39 apoptotic process GO:0006915 10.01 SQSTM1 SNCA PSEN1 HTT CLU APP

Molecular functions related to Pick Disease of Brain according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.73 SQSTM1 SNCA MAPT APP
2 amyloid-beta binding GO:0001540 9.5 CRYAB CLU APOE
3 low-density lipoprotein particle receptor binding GO:0050750 9.4 CLU APOE
4 dynactin binding GO:0034452 9.37 MAPT HTT
5 identical protein binding GO:0042802 9.28 TARDBP SQSTM1 SNCA MAPT HTT FUS
6 lipoprotein particle binding GO:0071813 9.16 MAPT APOE
7 tau protein binding GO:0048156 9.13 SNCA CLU APOE
8 protein binding GO:0005515 10.16 TARDBP SQSTM1 SNCA RPS27A RD3 PSEN1

Sources for Pick Disease of Brain

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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