TY - JOUR
T1 - Variant Gerstmann-Straussler syndrome with the P105L prion gene mutation
T2 - An unusual case with nigral degeneration and widespread neurofibrillary tangles
AU - Yamazaki, Mineo
AU - Oyanagi, Kiyomitsu
AU - Mori, Osamu
AU - Kitamura, Shin
AU - Ohyama, Masashi
AU - Terashi, Akiro
AU - Kitamoto, Tetsuyuki
AU - Katayama, Yasuo
PY - 1999/11
Y1 - 1999/11
N2 - We present here a case of variant Gerstmann-Straussler syndrome (GSS) with a codon 105 mutation of the prion protein gene. A 57-year-old woman developed dementia and gait disturbance dissimilar to the spastic paraparesis that is observed in most cases with codon 105 mutation. The clinical course of the disease in this case was 12 years. The brain weighed 900 g, and the frontal lobe, pallidum and thalamus were markedly atrophic. Severe neuronal loss was observed in the deep layer of the frontal and temporal cortices, and fibrillary gliosis and a marked loss of neurons was observed in the globus pallidus, thalamus and substantia nigra. Many amyloid plaques and some ballooned neurons were present in the frontal, temporal and parietal cortices. However no spongiform changes were seen. The cerebellum was relatively well preserved. Numerous neurofibrillary tangles (NFTs) were recognized in the cerebral cortices, and scattered NFTs were observed in the basal nucleus of Meynert, thalamus, substantia nigra, periaqueductal gray matter, raphe nuclei and locus ceruleus. The case presented here indicates the presence of variations in the pathological findings of cases with codon 105 mutation, and that the formation of cortical and brain stem NFTs might have something to do with the duration of illness and/or the degree of brain tissue destruction that had occurred.
AB - We present here a case of variant Gerstmann-Straussler syndrome (GSS) with a codon 105 mutation of the prion protein gene. A 57-year-old woman developed dementia and gait disturbance dissimilar to the spastic paraparesis that is observed in most cases with codon 105 mutation. The clinical course of the disease in this case was 12 years. The brain weighed 900 g, and the frontal lobe, pallidum and thalamus were markedly atrophic. Severe neuronal loss was observed in the deep layer of the frontal and temporal cortices, and fibrillary gliosis and a marked loss of neurons was observed in the globus pallidus, thalamus and substantia nigra. Many amyloid plaques and some ballooned neurons were present in the frontal, temporal and parietal cortices. However no spongiform changes were seen. The cerebellum was relatively well preserved. Numerous neurofibrillary tangles (NFTs) were recognized in the cerebral cortices, and scattered NFTs were observed in the basal nucleus of Meynert, thalamus, substantia nigra, periaqueductal gray matter, raphe nuclei and locus ceruleus. The case presented here indicates the presence of variations in the pathological findings of cases with codon 105 mutation, and that the formation of cortical and brain stem NFTs might have something to do with the duration of illness and/or the degree of brain tissue destruction that had occurred.
KW - Gait apraxia
KW - Gerstmann-Straussler syndrome
KW - Neurofibrillary tangles
KW - Prion protein
KW - Substantia nigra
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U2 - 10.1007/s004010051116
DO - 10.1007/s004010051116
M3 - Article
C2 - 10541874
AN - SCOPUS:0033228346
VL - 98
SP - 506
EP - 511
JO - Acta Neuropathologica
JF - Acta Neuropathologica
SN - 0001-6322
IS - 5
ER -