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

Research output: Contribution to journal › Article › peer-review

16 Citations (Scopus)

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 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.

Original language	English
Pages (from-to)	54-59
Number of pages	6
Journal	Neurology
Volume	36
Issue number	1
DOIs	https://doi.org/10.1212/wnl.36.1.54
Publication status	Published - 01-1986
Externally published	Yes

All Science Journal Classification (ASJC) codes

Clinical Neurology

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10.1212/wnl.36.1.54

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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",

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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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U2 - 10.1212/wnl.36.1.54

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SP - 54

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JO - Neurology

JF - Neurology

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ER -

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

Abstract

All Science Journal Classification (ASJC) codes

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