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Ultrastructure of Rectal Biopsy Specimens in Unusual Familial Ataxia with Cerebrospinal Fluid Abnormality
Author(s) -
Nakamura Ichiro,
Fukutani Yuken,
Kobayashi Katsuji,
Kawasaki Yasuhiro,
Sakamoto Hiroshi,
Yamaguchi Nariyoshi,
Matsubara Rokuro,
Isaki Kiminori,
Torii Hosaku
Publication year - 1990
Publication title -
psychiatry and clinical neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.609
H-Index - 74
eISSN - 1440-1819
pISSN - 1323-1316
DOI - 10.1111/j.1440-1819.1990.tb01637.x
Subject(s) - pathology , ultrastructure , eosinophilic , ataxia , cerebrospinal fluid , anatomy , leukodystrophy , biopsy , biology , brain biopsy , medicine , neuroscience , disease
The ultrastructure of rectal biopsy specimens from a 60‐year‐old woman of unusual familial ataxia with cerebrospinal fluid abnormality was investigated. She had two male siblings similarly affected and a close consanguinity in the family. Meissner's plexus neurons, Schwann cells, fibroblasts and smooth muscle cells within the rectum contained intracytoplasmic eosinophilic inclusions (lEIs) with or without intensely eosinophilic granules. Ultrastructurally the lEIs were composed of a membrane‐bound, fine granular material with or without dense cores. The IEIs resembled intracytoplasmic inclusions seen in various cells of the central nervous system from a male autopsied sibling. The clinically and morphologically similar finding in the two siblings suggests an autosomal recessive inherited metabolic disorder previously unreported.