A family with β-galactosidase deficiency: Three adults with atypical clinical patterns

Tatsuro Mutoh; Itsuro Sobue; Makoto Naoi; Yukihiko Matsuoka; Kazutoshi Kiuchi; Kimiya Sugimura

doi:10.1212/wnl.36.1.54

A family with β-galactosidase deficiency: Three adults with atypical clinical patterns

Tatsuro Mutoh, Itsuro Sobue, Makoto Naoi, Yukihiko Matsuoka, Kazutoshi Kiuchi, Kimiya Sugimura

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

16 被引用数 (Scopus)

抄録

Three adult patients in a single family showed severe myoclonus, ataxia, and pyramidal signs. Enzymatic analysis of lymphocytes, plasma, and cultured skin fibroblasts showed marked deficiency of β-galactosidase activity, more profound with G_M1 ganglioside than with another natural substrate, asialofetuin. Other lysosomal hydrolases were normal. Although the physical signs were similar to those of types 1 and 2 G_M1 gangliosidosis, none had bony abnormalities.

本文言語	英語
ページ（範囲）	54-59
ページ数	6
ジャーナル	Neurology
巻	36
号	1
DOI	https://doi.org/10.1212/wnl.36.1.54
出版ステータス	出版済み - 01-1986
外部発表	はい

All Science Journal Classification (ASJC) codes

臨床神経学

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10.1212/wnl.36.1.54

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title = "A family with β-galactosidase deficiency: Three adults with atypical clinical patterns",

abstract = "Three adult patients in a single family showed severe myoclonus, ataxia, and pyramidal signs. Enzymatic analysis of lymphocytes, plasma, and cultured skin fibroblasts showed marked deficiency of β-galactosidase activity, more profound with GM1 ganglioside than with another natural substrate, asialofetuin. Other lysosomal hydrolases were normal. Although the physical signs were similar to those of types 1 and 2 GM1 gangliosidosis, none had bony abnormalities.",

author = "Tatsuro Mutoh and Itsuro Sobue and Makoto Naoi and Yukihiko Matsuoka and Kazutoshi Kiuchi and Kimiya Sugimura",

year = "1986",

month = jan,

doi = "10.1212/wnl.36.1.54",

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T1 - A family with β-galactosidase deficiency

T2 - Three adults with atypical clinical patterns

AU - Mutoh, Tatsuro

AU - Sobue, Itsuro

AU - Naoi, Makoto

AU - Matsuoka, Yukihiko

AU - Kiuchi, Kazutoshi

AU - Sugimura, Kimiya

PY - 1986/1

Y1 - 1986/1

N2 - Three adult patients in a single family showed severe myoclonus, ataxia, and pyramidal signs. Enzymatic analysis of lymphocytes, plasma, and cultured skin fibroblasts showed marked deficiency of β-galactosidase activity, more profound with GM1 ganglioside than with another natural substrate, asialofetuin. Other lysosomal hydrolases were normal. Although the physical signs were similar to those of types 1 and 2 GM1 gangliosidosis, none had bony abnormalities.

AB - Three adult patients in a single family showed severe myoclonus, ataxia, and pyramidal signs. Enzymatic analysis of lymphocytes, plasma, and cultured skin fibroblasts showed marked deficiency of β-galactosidase activity, more profound with GM1 ganglioside than with another natural substrate, asialofetuin. Other lysosomal hydrolases were normal. Although the physical signs were similar to those of types 1 and 2 GM1 gangliosidosis, none had bony abnormalities.

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EP - 59

JO - Neurology

JF - Neurology

IS - 1

ER -

A family with β-galactosidase deficiency: Three adults with atypical clinical patterns

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