Gerstmann-Straussler-Scheinker syndrome
- Synonyms
- Amyloidosis cerebral with spongiform encephalopathy; CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS; Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system; Encephalopathy subacute spongiform Gerstmann-Straussler type; GERSTMANN-STRAUSSLER DISEASE; Gerstmann-Straussler-Scheinker Disease; PRION DEMENTIA; Spinocerebellar ataxia and plaque-like deposits; Spongiform encephalopathy
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Inga Zerr
- Matthias Schmitz
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (27 available)
Clinical features
Help- Abnormality of limbs
- Lower limb muscle weakness
Lower limb muscle weakness
- MedGen UID: 324478
- Concept ID: C1836296
- Finding: Finding
Abnormality of limbs
- Lower limb muscle weakness
- Abnormality of the eye
- Impaired smooth pursuit
Impaired smooth pursuit
- MedGen UID: 325176
- Concept ID: C1837458
- Finding: Finding
Abnormality of the eye
- Impaired smooth pursuit
- Abnormality of the musculoskeletal system
- Rigidity
Rigidity
- MedGen UID: 7752
- Concept ID: C0026837
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Rigidity
- Abnormality of the nervous system
- Aggressive behavior
Aggressive behavior
- MedGen UID: 1375
- Concept ID: C0001807
- Finding: Individual Behavior
Abnormality of the nervous system
- Apraxia
Apraxia
- MedGen UID: 8166
- Concept ID: C0003635
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Bradykinesia
Bradykinesia
- MedGen UID: 115925
- Concept ID: C0233565
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dementia
Dementia
- MedGen UID: 99229
- Concept ID: C0497327
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Depression
Depression
- MedGen UID: 4229
- Concept ID: C0011581
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Emotional lability
Emotional lability
- MedGen UID: 39319
- Concept ID: C0085633
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Gait ataxia
Gait ataxia
- MedGen UID: 155642
- Concept ID: C0751837
- Finding: Sign or Symptom
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Limb ataxia
Limb ataxia
- MedGen UID: 196692
- Concept ID: C0750937
- Finding: Finding
Abnormality of the nervous system
- Memory impairment
Memory impairment
- MedGen UID: 68579
- Concept ID: C0233794
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Neurofibrillary tangles
Neurofibrillary tangles
- MedGen UID: 39273
- Concept ID: C0085400
- Finding: Finding
Abnormality of the nervous system
- Parkinsonian disorder
Parkinsonian disorder
- MedGen UID: 66079
- Concept ID: C0242422
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Perseverative thought
Perseverative thought
- MedGen UID: 66686
- Concept ID: C0233651
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Personality changes
Personality changes
- MedGen UID: 66817
- Concept ID: C0240735
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Psychotic disorder
Psychotic disorder
- MedGen UID: 19568
- Concept ID: C0033975
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Tremor
Tremor
- MedGen UID: 21635
- Concept ID: C0040822
- Finding: Sign or Symptom
Abnormality of the nervous system
- Truncal ataxia
Truncal ataxia
- MedGen UID: 96535
- Concept ID: C0427190
- Finding: Sign or Symptom
Abnormality of the nervous system
- Aggressive behavior
- Growth abnormality
- Weight loss
Weight loss
- MedGen UID: 853198
- Concept ID: C1262477
- Finding: Finding
Growth abnormality
- Weight loss
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