Gerstmann-Straussler-Scheinker syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS
ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE
AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY
PRION DEMENTIA CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED
GERSTMANN-STRAUSSLER-SCHEINKER DISEASE
GSS
GSD
Subacute spongiform encephalopathy, Gerstmann-Straussler type
Number of Symptoms 41
OrphanetNr: 356
OMIM Id: 137440
ICD-10: A81.8
UMLs: C0017495
MeSH: D016098
MedDRA:
Snomed: 67155006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dementia
 -Rare genetic disease
Inherited prion disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0007772) Impaired smooth pursuit 21 / 7739
2
(HPO:0001284) Areflexia 198 / 7739
3
(HPO:0001337) Tremor 200 / 7739
4
(HPO:0002067) Bradykinesia 62 / 7739
5
(HPO:0000718) Aggressive behavior 109 / 7739
6
(HPO:0002063) Rigidity 92 / 7739
7
(HPO:0001347) Hyperreflexia 363 / 7739
8
(HPO:0000712) Emotional lability 44 / 7739
9
(HPO:0002354) Memory impairment 63 / 7739
10
(HPO:0001260) Dysarthria 329 / 7739
11
(HPO:0001257) Spasticity 251 / 7739
12
(HPO:0000751) Personality changes 33 / 7739
13
(HPO:0002186) Apraxia 22 / 7739
14
(HPO:0002070) Limb ataxia 41 / 7739
15
(HPO:0001300) Parkinsonism 75 / 7739
16
(HPO:0000709) Psychosis 61 / 7739
17
(HPO:0002078) Truncal ataxia 41 / 7739
18
(HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
19
(HPO:0001336) Myoclonus 115 / 7739
20
(HPO:0001251) Ataxia 413 / 7739
21
(HPO:0002066) Gait ataxia 327 / 7739
22
(HPO:0000726) Dementia 131 / 7739
23
(HPO:0000716) Depression 99 / 7739
24
(HPO:0001824) Weight loss 42 / 7739
25
(HPO:0007340) Lower limb muscle weakness 61 / 7739
26
(HPO:0001272) Cerebellar atrophy 197 / 7739
27
(HPO:0003678) Rapidly progressive 33 / 7739
28
(OMIM) Amyloid-like plaques are not immunoreactive to APP (104760) 1 / 7739
29
(HPO:0003581) Adult onset 117 / 7739
30
(HPO:0003812) Phenotypic variability 129 / 7739
31
(MedDRA:10034703) Perseveration 3 / 7739
32
(OMIM) Rapid weight loss late in the disease 1 / 7739
33
(HPO:0002185) Neurofibrillary tangles 14 / 7739
34
(HPO:0030223) Perseveration 5 / 7739
35
(OMIM) Dysesthesias of the lower limbs 1 / 7739
36
(OMIM) PRNP-immunoreactive cerebral amyloid angiopathy (in some patients) 1 / 7739
37
(OMIM) Some patients have periodic wave complexes on EEG 1 / 7739
38
(OMIM) Spongiform changes are mild or may not be present 1 / 7739
39
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
40
(OMIM) Amyloid-like plaques, immunoreactive to PrP, predominantly in the cerebellum 1 / 7739
41
(OMIM) Neurofibrillary tangles may be present 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Gerstmann-Straussler disease is a rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain (Gerstmann et al., 1936). Gerstmann-Straussler disease typically presents with progressive limb and ...
Clinical Description OMIM Seitelberger (1962) described a kindred with a unique neurologic disorder traced through 5 generations. Plaque-like deposits were found in the cerebral cortex, basal ganglia, and (most extremely) all layers of the cerebellum. Clinically and pathologically the disorder most ...
Molecular genetics OMIM In affected members of 2 unrelated families with autosomal dominant inheritance of Gerstmann-Straussler disease, Hsiao et al. (1989) identified a heterozygous mutation in the PRNP gene (P102L; 176640.0002).

In a 36-year-old woman who belonged to the ...