MCID: HRD010
MIFTS: 65

Hereditary Spastic Paraplegia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Metabolic diseases, Mental diseases

Aliases & Classifications for Hereditary Spastic Paraplegia

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Aliases & Descriptions for Hereditary Spastic Paraplegia:

Name: Hereditary Spastic Paraplegia 35 11 23 48 24 49 27 13
Hereditary Spastic Paraparesis 11 23 24
Familial Spastic Paraplegia 11 23 24
Spastic Paraplegia, Hereditary 39 68
Strumpell-Lorrain Syndrome 23 24
Hsp 48 24
 
Spastic Paraplegia 3, Autosomal Dominant 68
Spastic Paraplegia Hereditary 50
Familial Spastic Paraparesis 48
Strumpell-Lorrain Disease 11
French Settlement Disease 11
Fsp 48

Classifications:



External Ids:

Disease Ontology11 DOID:2476
ICD1030 G11.4
ICD9CM32 334.1
MeSH39 D015419

Summaries for Hereditary Spastic Paraplegia

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NIH Rare Diseases:48 Hereditary spastic paraplegia (HSP) is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. In hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages, causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs. This leads to difficulty walking. As degeneration continues, symptoms worsen. If only the lower body is affected, HSP is classified as uncomplicated or pure. HSP is classified as complicated or complex if other systems are involved. In these cases, additional symptoms, including impaired vision, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and/or deafness, occur. The different forms of HSP are caused by mutations in different genes. Inheritance varies. There are no specific treatments to prevent, slow, or reverse HSP. Individual symptoms may be treated with medications and/or physical therapy.  Last updated: 4/24/2016

MalaCards based summary: Hereditary Spastic Paraplegia, also known as hereditary spastic paraparesis, is related to spastic paraplegia 11 and spinocerebellar degeneration, and has symptoms including hypertonia, gait disturbance and hemiplegia/hemiparesis. An important gene associated with Hereditary Spastic Paraplegia is KIF1A (Kinesin Family Member 1A). Affiliated tissues include testes, brain and retina, and related mouse phenotypes are nervous system and reproductive system.

Disease Ontology:11 A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.

NINDS:49 Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness. These symptoms typically slowly progress so that eventually individuals with HSP may require the assistance of a cane, walker, or wheelchair. Though the primary features of "pure" HSP are progressive lower limb spasticity and weakness, complicated forms may be accompanied by other symptoms. These additional symptoms include impaired vision due to cataracts and problems with the optic nerve and retina of the eye, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness. The diagnosis of HSP is primarily by neurological examination and testing to rule out other disorders. Brain MRI abnormalities, such as a thin corpus callosum, may be seen in some of the complicated forms of HSP.

Wikipedia:71 Hereditary spastic paraplegia (HSP), also known as hereditary spastic paraparesis, familial spastic... more...

GeneReviews for NBK1509

Related Diseases for Hereditary Spastic Paraplegia

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Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 63
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 23
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 4, Autosomal Dominant Spastic Paraplegia 31, Autosomal Dominant
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 57, Autosomal Recessive Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 14, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 72, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 48, Autosomal Recessive
Spastic Paraplegia 50, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 54, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 8, Autosomal Dominant Spastic Paraplegia 46, Autosomal Recessive
Spastic Paraplegia 19, Autosomal Dominant Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 64, Autosomal Recessive Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 9b, Autosomal Recessive
Spastic Paraplegia 45, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 10, Autosomal Dominant
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 24, Autosomal Recessive Spastic Paraplegia 3a, Autosomal Dominant
Spastic Paraplegia 52, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 28, Autosomal Recessive Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 49, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 11, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 35, Autosomal Recessive
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 12, Autosomal Dominant
Spastic Paraplegia 73, Autosomal Dominant hereditary spastic paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 7
Spastic Paraplegia 8 Spastic Paraplegia 11
Spastic Paraplegia 1 Spastic Paraplegia 10
Spastic Paraplegia 12 Spastic Paraplegia 13
Spastic Paraplegia 14 Spastic Paraplegia 15
Spastic Paraplegia 16 Spastic Paraplegia 17
Spastic Paraplegia 18 Spastic Paraplegia 19
Spastic Paraplegia 2 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Spastic Paraplegia 28 Spastic Paraplegia 30
Spastic Paraplegia 33 Spastic Paraplegia 35
Spastic Paraplegia 42 Spastic Paraplegia 43
Spastic Paraplegia 45 Spastic Paraplegia 46
Spastic Paraplegia 47 Spastic Paraplegia 48
Spastic Paraplegia 49 Spastic Paraplegia 50
Spastic Paraplegia 52 Spastic Paraplegia 53
Spastic Paraplegia 54 Spastic Paraplegia 55
Spastic Paraplegia 56 Spastic Paraplegia 57
Spastic Paraplegia 59 Spastic Paraplegia 61
Spastic Paraplegia 62 Spastic Paraplegia 64
Spastic Paraplegia 66 Spastic Paraplegia 72
Spastic Paraplegia 75 Spastic Paraplegia 76
Spastic Paraplegia 44 Autosomal Recessive Spastic Paraplegia Type 77
Autosomal Recessive Spastic Paraplegia Type 62 Autosomal Recessive Spastic Paraplegia Type 60
Autosomal Recessive Spastic Paraplegia Type 59 Autosomal Recessive Spastic Paraplegia Type 68
Autosomal Recessive Spastic Paraplegia Type 69 Autosomal Recessive Spastic Paraplegia Type 70
Autosomal Recessive Spastic Paraplegia Type 71 Autosomal Recessive Spastic Paraplegia Type 66
Autosomal Recessive Spastic Paraplegia Type 67

Diseases related to Hereditary Spastic Paraplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 147)
idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 1132.6CYP7B1, KIF1A, SPG7
2spinocerebellar degeneration29.2DDHD1, KIF1A, SPAST, SPG7
3troyer syndrome12.2
4spg11-related hereditary spastic paraplegia with thin corpus callosum11.9
5masa syndrome11.9
6spastic paraplegia 711.8
7infantile-onset ascending hereditary spastic paralysis11.7
8spastic paraplegia 411.7
9spastic paraplegia 811.7
10mast syndrome11.6
11spastic paraplegia 211.6
12silver spastic paraplegia syndrome11.5
13spastic paraplegia 3a11.5
14spastic paraplegia 4, autosomal dominant11.3
15spastic paraplegia 5a, autosomal recessive11.3
16spastic paraplegia 3a, autosomal dominant11.3
17spastic paraplegia 11, autosomal recessive11.3
18spastic paraplegia 7, autosomal recessive11.3
19spastic paraplegia 2, x-linked11.3
20spastic paraplegia 3111.2
21paraplegia11.2
22spasticity11.2
23spastic paraplegia 1511.1
24familial spastic paralysis11.0
25foot drop11.0
26neuropathy10.4
27ataxia10.3
28hypotrichosis 110.3AFG3L2, SPG7
29lateral sclerosis10.2
30dementia10.2
31cerebritis10.2
32neuronitis10.2
33spastic paraplegia 9a, autosomal dominant10.1
34hereditary ataxia10.1
35axonal neuropathy10.1
36spastic paraplegia 29, autosomal dominant10.0
37spastic paraplegia 6310.0
38spastic paraplegia 2310.0
39spastic paraplegia 44, autosomal recessive10.0
40spastic paraplegia 31, autosomal dominant10.0
41spastic paraplegia 13, autosomal dominant10.0
42spastic ataxia 3, autosomal recessive10.0
43spastic paraplegia 30, autosomal recessive10.0
44mental retardation, autosomal dominant 1910.0
45spastic paraplegia 57, autosomal recessive10.0
46spastic paraplegia 42, autosomal dominant10.0
47spastic paraplegia 14, autosomal recessive10.0
48spastic paraplegia 38, autosomal dominant10.0
49spastic paraplegia 56, autosomal recessive10.0
50spastic paraplegia 72, autosomal recessive10.0

Graphical network of the top 20 diseases related to Hereditary Spastic Paraplegia:



Diseases related to hereditary spastic paraplegia

Symptoms & Phenotypes for Hereditary Spastic Paraplegia

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Human phenotypes related to Hereditary Spastic Paraplegia:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 hypertonia64 hallmark (90%) HP:0001276
2 gait disturbance64 hallmark (90%) HP:0001288
3 hemiplegia/hemiparesis64 hallmark (90%) HP:0004374
4 impaired pain sensation64 hallmark (90%) HP:0007328
5 incoordination64 typical (50%) HP:0002311
6 finger syndactyly64 occasional (7.5%) HP:0006101

UMLS symptoms related to Hereditary Spastic Paraplegia:


cramps of lower extremities, pain in lower limb, hyperexplexia, weakness of lower limb

MGI Mouse Phenotypes related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.3AFG3L2, ALS2, GALC, HSPD1, KATNB1, KIF1A
2MP:00053897.2BSCL2, CYP7B1, DDHD1, HSPD1, KATNB1, L1CAM
3MP:00053787.1AFG3L2, ALS2, BSCL2, GALC, HSPD1, KATNB1
4MP:00053866.8AFG3L2, ALS2, ATL1, BSCL2, CYP7B1, GALC

Drugs & Therapeutics for Hereditary Spastic Paraplegia

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Drugs for Hereditary Spastic Paraplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineapprovedPhase 2, Phase 377651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2Neurotransmitter AgentsPhase 2, Phase 317734
3Cholinergic AgentsPhase 2, Phase 33846
4Botulinum ToxinsPhase 2, Phase 3669
5
chenodeoxycholic acidapprovedPhase 232474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
6
Resveratrolexperimental, investigationalPhase 2112501-36-0, 955365-80-724856436, 445154
Synonyms:
(E)-5-(2-(4-hydroxyphenyl)ethenyl)-1,3-benzenediol
(E)-5-(p-Hydroxystyryl)resorcinol
(E)-5-[2-(4-Hydroxyphenyl)ethenyl]-1,3-benzenediol
(E)-5-[2-(4-hydroxyphenyl)ethenyl]-1,3-benzendiol
(E)-resveratrol
 
3,4',5-Stilbenetriol
3,4',5-Trihydroxystilbene
3,4',5-trihydroxy-stilbene
MK-1775
trans-3,4',5 - Trihydroxystilbene
trans-3,4',5-trihydroxystilbene
trans-Resveratrol
7Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21956
8Gastrointestinal AgentsPhase 28109
9Hypolipidemic AgentsPhase 22721
10Peripheral Nervous System AgentsPhase 222776
11Protective AgentsPhase 27190
12Platelet Aggregation InhibitorsPhase 22419
13CatharticsPhase 2520
14Lipid Regulating AgentsPhase 22702
15LaxativesPhase 2520
16Calcium, DietaryPhase 25525
17Atorvastatin CalciumPhase 2743134523-03-8
18Anticholesteremic AgentsPhase 21983
19Analgesics, Non-NarcoticPhase 26260
20AnalgesicsPhase 211287
21Anti-Inflammatory Agents, Non-SteroidalPhase 24295
22Anti-Inflammatory AgentsPhase 210355
23AntimetabolitesPhase 211774
24AntioxidantsPhase 22928
25Antirheumatic AgentsPhase 210627
26Antineoplastic Agents, PhytogenicPhase 25420
27
Creatineapproved, nutraceutical12657-00-1586
Synonyms:
((amino(Imino)methyl)(methyl)amino)acetic acid
((amino(imino)methyl)(methyl)amino)acetate
((amino(imino)methyl)(methyl)amino)acetic acid
(N-methylcarbamimidamido)acetic acid
(alpha-Methylguanido)acetate
(alpha-Methylguanido)acetic acid
(α-methylguanido)acetic acid
Cosmocair C 100
Creatin
Creatine
Creatine hydrate
Kreatin
 
Krebiozon
Methylglycocyamine
Methylguanidoacetate
Methylguanidoacetic acid
N-(Aminoiminomethyl)-N-Methyl-Glycine
N-(aminoiminomethyl)-N-methylglycine
N-Amidinosarcosine
N-Carbamimidoyl-N-methylglycine
N-Methyl-N-guanylglycine
N-[(e)-AMINO(imino)methyl]-N-methylglycine
Phosphagen
[[Amino(imino)methyl](methyl)amino]acetate
[[Amino(imino)methyl](methyl)amino]acetic acid
alpha-Methylguanidino acetic acid
28
Cholineapproved, nutraceutical14862-49-7305
Synonyms:
(2-Hydroxyethyl)trimethyl ammonium
(2-Hydroxyethyl)trimethylammonium
(beta-hydroxyethyl)trimethylammonium
2-Hydroxy-N,N,N-trimethyl-ethanaminium
2-Hydroxy-N,N,N-trimethylethanaminium
Bilineurine
Biocolina
Biocoline
Choline
Choline cation
 
Choline ion
Cholinum
Hepacholine
Hormocline
Lipotril
N,N,N-Trimethylethanol-ammonium
N,N,N-Trimethylethanolammonium
N,N,N-trimethylethanol-ammonium
N-trimethylethanolamine
Neocolina
Paresan
trimethylethanolamine
29N-Methylaspartate104
30Aspartic AcidNutraceutical104

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic ParaplegiaActive, not recruitingNCT02604186Phase 2, Phase 3
2Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5Active, not recruitingNCT02314208Phase 2
3Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral SclerosisCompletedNCT00023075
4Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31RecruitingNCT02859428
5Phenotype, Genotype & Biomarkers in ALS and Related DisordersRecruitingNCT02327845
6Genetic and Physical Study of Childhood Nerve and Muscle DisordersRecruitingNCT01568658
7Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
8A Patient Centric Motor Neuron Disease Activities of Daily Living ScaleNot yet recruitingNCT02852278

Search NIH Clinical Center for Hereditary Spastic Paraplegia


Cochrane evidence based reviews: spastic paraplegia, hereditary

Genetic Tests for Hereditary Spastic Paraplegia

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Genetic tests related to Hereditary Spastic Paraplegia:

id Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia27 24

Anatomical Context for Hereditary Spastic Paraplegia

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MalaCards organs/tissues related to Hereditary Spastic Paraplegia:

36
Testes, Brain, Retina, Eye, Spinal cord, Cerebellum, Bone

Publications for Hereditary Spastic Paraplegia

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Articles related to Hereditary Spastic Paraplegia:

(show top 50)    (show all 527)
idTitleAuthorsYear
1
Clinical and genetic study of hereditary spastic paraplegia in Canada. (27957547)
2017
2
Beneficial effects of rapamycin in a Drosophila model for hereditary spastic paraplegia. (27909242)
2017
3
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. (27738760)
2017
4
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments. (28017243)
2017
5
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. (27217339)
2016
6
A novel SPAST frameshift mutation in a Chinese family with hereditary spastic paraplegia. (27629539)
2016
7
Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient. (27789400)
2016
8
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. (27679996)
2016
9
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement. (27034427)
2016
10
Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5). (27879220)
2016
11
Multiparametric 3T MRI evaluation of hereditary spastic paraplegia: A case report. (27857457)
2016
12
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. (27492651)
2016
13
A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. (27725288)
2016
14
Cognitive Impairment Involving Social Cognition in SPG4 Hereditary Spastic Paraplegia. (27688599)
2016
15
Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms. (26744324)
2016
16
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. (27153400)
2016
17
Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations. (26806216)
2016
18
SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China. (27553021)
2016
19
KCNA2 mutations are rare in hereditary spastic paraplegia. (28019661)
2016
20
Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18. (27824013)
2016
21
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11. (27900367)
2016
22
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. (27260292)
2016
23
Hereditary spastic paraplegia with a thin corpus callosum due to SPG11 mutation. (26755014)
2016
24
Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation. (27638887)
2016
25
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients. (26856398)
2016
26
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. (27084228)
2016
27
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56. (26936192)
2016
28
Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum. (27544497)
2016
29
Bone mineral density in patients with multiple sclerosis, hereditary ataxia or hereditary spastic paraplegia after at least 10A years of disease - a case control study. (27919248)
2016
30
De-novo KCNA2 mutations cause hereditary spastic paraplegia. (28032718)
2016
31
Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family. (27018819)
2016
32
Primary lateral sclerosis and hereditary spastic paraplegia in sporadic patients. (27121928)
2016
33
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. (27543892)
2016
34
The importance of understanding gait features in hereditary spastic paraplegia: accomplishments and next steps. (26946256)
2016
35
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia. (26888483)
2016
36
Kinematic gait deficits at the trunk and pelvis: characteristic features in children with hereditary spastic paraplegia. (26910787)
2016
37
Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells. (27956894)
2016
38
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia. (26751646)
2016
39
The Presynaptic Microtubule Cytoskeleton in Physiological and Pathological Conditions: Lessons from Drosophila Fragile X Syndrome and Hereditary Spastic Paraplegias. (27504085)
2016
40
Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia. (27229699)
2016
41
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. (27259058)
2016
42
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. (27108959)
2016
43
Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia. (27025852)
2016
44
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks. (27271711)
2016
45
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study. (27077743)
2016
46
Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia. (27318863)
2016
47
Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5). (27879216)
2016
48
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. (27334366)
2016
49
Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings. (28018685)
2016
50
ERRATUM: Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing. (26754338)
2016

Variations for Hereditary Spastic Paraplegia

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Clinvar genetic disease variations for Hereditary Spastic Paraplegia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KIF1ANM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu)SNVPathogenicrs786200949GRCh37Chr 2, 241727625: 241727625

Copy number variations for Hereditary Spastic Paraplegia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
114496423214218332236210DeletionSPASThereditary spastic paraplegia

Expression for genes affiliated with Hereditary Spastic Paraplegia

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Search GEO for disease gene expression data for Hereditary Spastic Paraplegia.

Pathways for genes affiliated with Hereditary Spastic Paraplegia

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GO Terms for genes affiliated with Hereditary Spastic Paraplegia

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Cellular components related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1m-AAA complexGO:000574510.5AFG3L2, SPG7
2axon cytoplasmGO:190411510.5KIF1A, SPAST, SPG7
3axonGO:00304249.6ALS2, ATL1, KATNB1, KIF1A, ZFYVE27
4midbodyGO:00304969.5KATNB1, SPAST, SPG20
5microtubuleGO:00058749.2DNAH8, KATNB1, KIF1A, KIF5A, SPAST

Biological processes related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1anterograde axonal transportGO:000808910.4KIF1A, SPAST, SPG7
2lipid particle organizationGO:003438910.2BSCL2, SPG20
3microtubule severingGO:005101310.2KATNB1, SPAST
4neuromuscular junction developmentGO:00075289.9AFG3L2, ALS2
5axonogenesisGO:00074099.9AFG3L2, ALS2, ATL1, SPAST
6positive regulation of microtubule depolymerizationGO:00311179.8KATNB1, SPAST

Molecular functions related to Hereditary Spastic Paraplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP-dependent peptidase activityGO:000417610.5AFG3L2, SPG7
2microtubule-severing ATPase activityGO:000856810.3KATNB1, SPAST
3microtubule bindingGO:00080179.8KATNB1, KIF1A, KIF5A, SPAST
4ATPase activityGO:00168879.5DNAH8, HSPD1, KIF1A
5unfolded protein bindingGO:00510829.1AFG3L2, HSPD1, SPG7
6ATP bindingGO:00055248.4AFG3L2, DNAH8, HSPD1, KIF1A, KIF5A, SPAST

Sources for Hereditary Spastic Paraplegia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
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46NDF-RT
49NINDS
50Novoseek
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53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet