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

Access to Document

10.1212/wnl.36.1.54

Cite this

@article{224eadb2cdf542e2bcb852fc243a034a,

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",

language = "English",

volume = "36",

pages = "54--59",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "1",

}

TY - JOUR

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.

UR - http://www.scopus.com/inward/record.url?scp=0022645669&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0022645669&partnerID=8YFLogxK

U2 - 10.1212/wnl.36.1.54

DO - 10.1212/wnl.36.1.54

M3 - Article

C2 - 3079894

AN - SCOPUS:0022645669

SN - 0028-3878

VL - 36

SP - 54

EP - 59

JO - Neurology

JF - Neurology

IS - 1

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Fingerprint

Cite this