Gerstmann‐Sträussler‐Scheinker disease. I. Extending the clinical spectrum

Abstract

We present the clinical findings in affected members of a large kindred with Gerstmann-Sträussler-Scheinker disease. Sixty-four patients exhibited progressive ataxia, dementia, and parkinsonian features. Inheritance appears to be autosomal dominant. Impaired smooth-pursuit eye movements, defective short-term memory, clumsiness of the hands, and ataxia of gait develop in the late 30s to early 60s. Eye movement abnormalities are characteristic of cerebellar dysfunction. Dementia progresses gradually over several years. Later, rigidity and bradykinesia appear and, at this stage, there is often psychosis or severe depression with rapid weight loss. Death occurs in 6 months to 2 years after onset of rigidity. Magnetic resonance imaging in 2 affected individuals showed cerebellar atrophy. There is decreased T2 signal in the basal ganglia, consistent with iron deposition.

Prion Proteins with Different Conformations Accumulate in Gerstmann-Sträussler-Scheinker Disease Caused by A117V and F198S Mutations

“…These individuals (seven patients and one asymptomatic carrier) derive from three families and have been studied genetically and neuropathologically. [21][22][23][24][25][26] The data on these cases is summarized in Table 1.…”

Molecular Genetics of Gerstmann-Straussler-Scheinker Disease and Creutzfeld-Jakob Disease

“…The IK is characterized by pyramidal and cerebellar signs, dementia, dysarthria and progressive difficulties of ambulation.Prominent parkinsonian features -i.e., masked facies, bradykinesia, cogwheel rigidity but no tremors are readily detected [127,128]. Characteristic alterations of saccadic eye movement [129] may be detected before other signs and symptoms appear.…”

“…Characteristic alterations of saccadic eye movement [129] may be detected before other signs and symptoms appear. Optokinetic nystagmus and sleep disturbances were seen [128,129] PrP-amyloid plaques were seen in the gray matter of neocortex, cerebellum, midbrain, pontine tegmentum and medulla. Plaques were also visible in the striatum, claustrum, the amygdala, the hypothalamus and the thalamus.…”

Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene

“…In other pedigrees with inherited prion been considered as diagnoses in several family-members, disease progressive walking difficulties in combination with and patient 1-2 was diagnosed as a peculiar and unclassifiable parkinsonian features or spastic paraparesis have also been form of presenile dementia (Stam et al, 1968). Suspicion of described (Farlow et al, 1989;Kitamoto et at., 1993). Thus, an inherited form of prion disease in the fifth affected patient the characterization of slowly progressive, inherited prion (II-2) allowed for a correct retrospective diagnosis in the disease as a mainly 'cerebellar' syndrome may be incomplete preceding patients and in an early diagnosis in at best in some families, despite the original description of patient III-1.…”