Table 1.

Summary of genetic, clinical, and histopathologic features in the seven P102L GSS patients

Patient	Codon 129	Kindred	Sex	Age at onset	Duration (months)	Clinical signs	Pathology
1	M/M	French	M	56	30	Ataxia, pyramidal signs, dysarthria, dysphagia, dementia; no PSW on EEG	Moderate spongiosis, gliosis, neuronal loss, amyloid plaques
2	M/M	Austrian	F	37	34	Dementia, ataxia, apraxia, dysphagia, myoclonus, seizures, coma; PSW on EEG	Severe spongiosis, gliosis, neuronal loss, amyloid plaques
3	M/M	English/American	M	42	13	Severe dementia, ataxia, myoclonus, rigidity, coma; PSW on EEG	Severe spongiosis, gliosis, neuronal loss, amyloid plaques
4	M/M	Japanese	F	26	51	Ataxia, dysarthria, pyramidal, dysphagia, hallucinations, dementia; EEG: NA	Severe spongiosis, gliosis, neuronal loss, amyloid plaques
5	M/M	Italian/American	M	60	NA	At terminal stage: severe dementia, bedridden, rigidity; EEG: NA	Severe spongiosis, gliosis, neuronal loss, amyloid plaques
6	M/M	American	F	66	51	Ataxia, tremor, dementia, pyramidal signs; no PSW on EEG	Diffuse atrophy, no spongiosis, amyloid plaques
7	M/M	German	M	53	72	Ataxia, nystagmus, dysarthria, dementia; no PSW on EEG	Diffuse atrophy, no spongiosis, amyloid plaques

NA, not available; EEG, electroencephalogram; PSW, periodic sharp waves complexes; M/M, methionine/methionine.