An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.
J Neurol Sci
; 255(1-2): 87-9, 2007 Apr 15.
Article
em En
| MEDLINE
| ID: mdl-17349660
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'.
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Base de dados:
MEDLINE
Assunto principal:
Ataxia
/
Predisposição Genética para Doença
/
Transtornos Neurológicos da Marcha
/
Proteínas de Choque Térmico
/
Espasticidade Muscular
/
Mutação
Limite:
Female
/
Humans
/
Middle aged
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article