PPFG
MCID: PRM157
MIFTS: 19

Primary Progressive Freezing Gait (PPFG)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Primary Progressive Freezing Gait

MalaCards integrated aliases for Primary Progressive Freezing Gait:

Name: Primary Progressive Freezing Gait 58
Ppfg 58

Characteristics:

Orphanet epidemiological data:

58
primary progressive freezing gait
Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Primary Progressive Freezing Gait

MalaCards based summary : Primary Progressive Freezing Gait, also known as ppfg, is related to supranuclear palsy, progressive, 1 and corticobasal degeneration. An important gene associated with Primary Progressive Freezing Gait is SLC6A3 (Solute Carrier Family 6 Member 3). Related phenotypes are frequent falls and difficulty walking

Related Diseases for Primary Progressive Freezing Gait

Diseases related to Primary Progressive Freezing Gait via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 supranuclear palsy, progressive, 1 10.3
2 corticobasal degeneration 10.3
3 tremor 10.3
4 parkinsonism 10.1
5 hydrocephalus 10.1
6 lateral sclerosis 10.1
7 dysphagia 10.1

Graphical network of the top 20 diseases related to Primary Progressive Freezing Gait:



Diseases related to Primary Progressive Freezing Gait

Symptoms & Phenotypes for Primary Progressive Freezing Gait

Human phenotypes related to Primary Progressive Freezing Gait:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frequent falls 58 31 hallmark (90%) Very frequent (99-80%) HP:0002359
2 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
3 postural instability 58 31 hallmark (90%) Very frequent (99-80%) HP:0002172
4 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
5 clonus 58 31 frequent (33%) Frequent (79-30%) HP:0002169
6 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
7 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
8 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
9 postural tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002174
10 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
11 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
12 gait imbalance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002141
13 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
14 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
15 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
16 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
17 shuffling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002362
18 lewy bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0100315
19 impaired smooth pursuit 58 31 occasional (7.5%) Occasional (29-5%) HP:0007772
20 restless legs 58 31 occasional (7.5%) Occasional (29-5%) HP:0012452
21 hyperreflexia 58 Frequent (79-30%)

Drugs & Therapeutics for Primary Progressive Freezing Gait

Search Clinical Trials , NIH Clinical Center for Primary Progressive Freezing Gait

Genetic Tests for Primary Progressive Freezing Gait

Anatomical Context for Primary Progressive Freezing Gait

Publications for Primary Progressive Freezing Gait

Articles related to Primary Progressive Freezing Gait:

(show all 26)
# Title Authors PMID Year
1
Primary progressive freezing gait with impressive response to laser light visual cueing: a video case report. 61
30006722 2018
2
A sensitive HPLC-MS/MS method for the simultaneous detection of microbial transglutaminase, and bovine and porcine fibrinogen/thrombin in restructured meat. 61
28764076 2017
3
Degeneration of corticofugal fibers in a patient with primary progressive freezing gait: A case report. 61
28489770 2017
4
Primary progressive freezing gait: Report of five cases. 61
28488643 2017
5
Akinesia and freezing caused by Na+ leak-current channel (NALCN) deficiency corrected by pharmacological inhibition of K+ channels and gap junctions. 61
27636205 2017
6
Agarose gel purification of PCR products for denaturing gradient gel electrophoresis results in GC-clamp deletion. 61
25300603 2015
7
Posterior pharyngeal fat grafting for velopharyngeal insufficiency. 61
22329568 2013
8
Nigro-striatal involvement in primary progressive freezing gait: insights into a heterogeneous pathogenesis. 61
22459564 2012
9
Pedunculopontine nucleus deep brain stimulation produces sustained improvement in primary progressive freezing of gait. 61
20971757 2011
10
Improvement with duloxetine in primary progressive freezing gait. 61
21135389 2010
11
Primary progressive freezing gait in a patient with CO-induced parkinsonism. 61
20629158 2010
12
Pedunculopontine nucleus deep brain stimulation in a patient with primary progressive freezing gait disorder. 61
20051710 2010
13
Cardiac MIBG scintigraphy in Primary Progressive Freezing Gait. 61
18980855 2009
14
Rasagiline improves freezing in a patient with primary progressive freezing gait. 61
18067186 2008
15
The clinical spectrum of freezing of gait in atypical parkinsonism. 61
18668624 2008
16
Pure akinesia with gait freezing: a third clinical phenotype of progressive supranuclear palsy. 61
17712855 2007
17
Long lasting pure freezing of gait preceding progressive supranuclear palsy: a clinicopathological study. 61
17724746 2007
18
Primary progressive freezing gait: a syndrome with many causes. 61
16476942 2006
19
[Unusual causes of gait disorders]. 61
15095729 2003
20
The natural history of the syndrome of primary progressive freezing gait. 61
12433266 2002
21
Gait disorders. 61
12803684 2002
22
Primary progressive freezing gait. Case report. 61
9629371 1997
23
Influence of renal function on the steady-state pharmacokinetics of the antiarrhythmic propafenone and its phase I and phase II metabolites. 61
7589055 1995
24
Rapid determination of CYP2D6 phenotype during propafenone therapy by analysing urinary excretion of propafenone glucuronides. 61
8039531 1994
25
Primary progressive freezing gait. 61
8341293 1993
26
Metabolism of hexafluoropropene. Evidence for bioactivation by glutathione conjugate formation in the kidney. 61
1981536 1990

Variations for Primary Progressive Freezing Gait

Expression for Primary Progressive Freezing Gait

Search GEO for disease gene expression data for Primary Progressive Freezing Gait.

Pathways for Primary Progressive Freezing Gait

GO Terms for Primary Progressive Freezing Gait

Sources for Primary Progressive Freezing Gait

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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