Gerstmann-Straussler-Scheinker disease

Dr Rohit Sharma and Dr Henry Knipe ◉ ◈ et al.

Gerstmann-Straussler-Scheinker disease is a very rare type of human transmissible spongiform encephalopathy. It manifests with dementia and/or ataxia and is due to a mutation in the prion protein (PRNP) gene, which is inherited in an autosomal dominant pattern.

History and etymology

It is named after the Austrian-American neuropsychiatrist Josef Gerstmann (1887-1969) ⁶, also of Gerstmann syndrome fame, Austrian neuropathologist Ernst Sträussler (1872-1959) ⁴, and Austrian-American neuropathologist Ilya Mark Scheinker (1902-1954) ⁵.

References

Neurodegenerative diseases

Neurodegenerative diseases are legion and their classification just as protean. A useful approach is to divide them according to underlying pathological process, although even using this schema, there is much overlap and thus resulting confusion.

neurodegenerative MRI brain (an approach)
- measurements and ratios
  - midbrain to pons area ratio (for PSP)
  - Magnetic Resonance Parkinsonism Index (MRPI) (for PSP)
  - frontal horn width to intercaudate distance ratio (FH/CC) (for Huntington disease)
  - intercaudate distance to inner table width ratio (CC/IT) (for Huntington disease)
- signs
  - hummingbird sign (of PSP)
  - Mickey Mouse sign (of PSP)
  - morning glory sign (of PSP)
  - hot cross bun sign (of MSA-C)
  - hockey stick sign (of Creutzfeldt-Jakob disease)
  - pulvinar sign (of Creutzfeldt-Jakob disease)
- scoring systems
  - Fazekas scale for white matter lesions
  - posterior atrophy score of parietal atrophy (PA/PCA) (Koedam score)
  - medial temporal lobe atrophy score (MTA score)
  - global cortical atrophy scale (GCA scale)
neurodegenerative diseases
- synucleinopathies
  - diseases with Lewy bodies
    - Parkinson disease
      - Parkinson-plus syndrome
    - Lewy body disease
  - multiple systemic atrophy (MSA)
    - Shy-Drager syndrome
    - MSA-P (striatonigral degeneration)
      - putaminal rim sign
    - olivopontocerebellar atrophy (MSA-C)
- tauopathies
  - Alzheimer disease
    - typical/classical Alzheimer disease
    - variant (e.g. posterior cortical atrophy)
  - chronic traumatic encephalopathy (CTE)
  - corticobasal degeneration
  - frontotemporal lobar degeneration (FTLD) (not all are tau)
    - behavioral variant frontotemporal dementia (bvFTLD)
    - language variant frontotemporal dementia (lvFTLD) (primary progressive aphasia (PPA))
    - right temporal variant frontotemporal dementia
  - Pick disease
  - progressive supranuclear palsy (PSP)
- amyloidoses
- TDP-43 proteinopathies
  - limbic-predominant age-related TDP-43 encephalopathy
  - frontotemporal lobar degeneration (FTLD) (not all are TDP-43)
  - amyotrophic lateral sclerosis (ALS)
- spinocerebellar ataxias
- Huntington disease
- hereditary spastic paraplegia
- clinically unclassifiable parkinsonism (CUP)
- Unverricht-Lundborg disease
- prion diseases (not always included as neurodegenerative)
  - Creutzfeldt-Jakob disease (sporadic, variant, familial, and iatrogenic)
  - fatal familial insomnia
  - Gerstmann-Straussler-Scheinker disease
  - kuru
  - variably protease sensitive prionopathy

Article information

rID: 42392

System: Central Nervous System

Section: Syndromes

Tag: refs, cases

Synonyms or Alternate Spellings:

Gerstmann-Straussler-Scheinker syndrome

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