TY - JOUR
T1 - Widespread expression of α-synuclein and τ immunoreactivity in Hallervorden-Spatz syndrome with protracted clinical course
AU - Saito, Yuko
AU - Kawai, Mitsuru
AU - Inoue, Kiyoharu
AU - Sasaki, Ryogen
AU - Arai, Hiroyuki
AU - Nanba, Eiji
AU - Kuzuhara, Shigeki
AU - Ihara, Yasuo
AU - Kanazawa, Ichiro
AU - Murayama, Shigeo
PY - 2000/8/1
Y1 - 2000/8/1
N2 - Hallervorden-Spatz syndrome (HSS) is a rare autosomal recessive disorder clinically characterized by extrapyramidal signs and progressive dementia. In a typical case, the clinical symptoms become apparent during late childhood, and usually the course is protracted over a decade or more. We recently had an opportunity to study the brains of two cases of HSS with a clinical course of over 30 years. Case 1 was a 44-year-old female and case 2 was a 37-year- old male. Grossly, the brains showed severe fronto-temporal lobar atrophy with abundant spheroids and mild iron deposits in the globus pallidus, associated with features of motor neuron disease. In addition, there was diffuse sponginess in the atrophic cortex as well as widespread Alzheimer's neurofibrillary tangles (NFTs) and Lewy bodies (LBs) in the cortical and subcortical regions, including the spinal cord. Ultrastructurally, NFTs were composed of paired helical filaments, and LBs of central dense cores with radiating fibrils. Discrete immunostaining was demonstrated in NFTs and neuropil threads with various antibodies against phosphorylated τ, and in LBs with antibody against α-synuclein. In addition, diffuse, overlapping immunoreactivity of α-synuclein and phosphorylated τ was seen within the cytoplasm of many neurons. However, when LBs and NFTs coexisted within the same neurons, they were clearly segregated. The findings of our present cases as well as those reported in the literature may indicate that simultaneous and extensive occurrence of abnormal phosphorylation of τ and accumulation of α-synuclein may constitute cardinal pathological features of HSS with protracted clinical course. (C) 2000 Elsevier Science B.V.
AB - Hallervorden-Spatz syndrome (HSS) is a rare autosomal recessive disorder clinically characterized by extrapyramidal signs and progressive dementia. In a typical case, the clinical symptoms become apparent during late childhood, and usually the course is protracted over a decade or more. We recently had an opportunity to study the brains of two cases of HSS with a clinical course of over 30 years. Case 1 was a 44-year-old female and case 2 was a 37-year- old male. Grossly, the brains showed severe fronto-temporal lobar atrophy with abundant spheroids and mild iron deposits in the globus pallidus, associated with features of motor neuron disease. In addition, there was diffuse sponginess in the atrophic cortex as well as widespread Alzheimer's neurofibrillary tangles (NFTs) and Lewy bodies (LBs) in the cortical and subcortical regions, including the spinal cord. Ultrastructurally, NFTs were composed of paired helical filaments, and LBs of central dense cores with radiating fibrils. Discrete immunostaining was demonstrated in NFTs and neuropil threads with various antibodies against phosphorylated τ, and in LBs with antibody against α-synuclein. In addition, diffuse, overlapping immunoreactivity of α-synuclein and phosphorylated τ was seen within the cytoplasm of many neurons. However, when LBs and NFTs coexisted within the same neurons, they were clearly segregated. The findings of our present cases as well as those reported in the literature may indicate that simultaneous and extensive occurrence of abnormal phosphorylation of τ and accumulation of α-synuclein may constitute cardinal pathological features of HSS with protracted clinical course. (C) 2000 Elsevier Science B.V.
KW - Lewy body
KW - Neuroaxonal dystrophy
KW - Neurofibrillary tangle
KW - Tau
KW - α-Synuclein
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U2 - 10.1016/S0022-510X(00)00337-3
DO - 10.1016/S0022-510X(00)00337-3
M3 - Article
C2 - 10967182
AN - SCOPUS:0034253913
VL - 177
SP - 48
EP - 59
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1
ER -