An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.

Abstract:

:The authors describe an unusual case of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without leg spasticity, which is a core clinical feature of ARSACS. This is the second family with a spasticity-lacking phenotype in ARSACS. A peripheral nerve conduction study disclosed decreases in motor and sensory nerve conduction velocities with the disease progression. Although the leg spasticity is reported to become progressively worse during the disease and is prevalent in older patients, we first observed that the symptom had disappeared, probably due to the progressive peripheral nerve degeneration in the disease course. Thus, we should analyze the SACS gene even in cases of early-onset cerebellar ataxia without spasticity. The patient had a novel homozygous 2-base pair deletion mutation (c.5988-9 del CT) of the SACS gene, but the genotype was different from that in our first family of this phenotype. A further genotype-phenotype correlation study is required to clarify the molecular mechanism underlying 'sacsinopathies'.

journal_name

J Neurol Sci

authors

Shimazaki H,Sakoe K,Niijima K,Nakano I,Takiyama Y

doi

10.1016/j.jns.2007.02.002

subject

Has Abstract

pub_date

2007-04-15 00:00:00

pages

87-9

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(07)00106-2

journal_volume

255

pub_type

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