Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic.
J Neurol Sci
; 285(1-2): 121-4, 2009 Oct 15.
Article
em En
| MEDLINE
| ID: mdl-19608203
ABSTRACT
BACKGROUND:
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disease characterized by cerebellar ataxia associated with varying phenotypic variability. It was reported that a few of SCA3/MJD patients showed marked spastic paraplegia with or without cerebellar ataxia, which was partially first diagnosed as hereditary spastic paraplegia (HSP) and considered to be a new subtype (subtype V). But the data in China is still absent.OBJECTIVE:
To investigate the mutation frequency and clinical features of subtype V of SCA3/MJD in Chinese patients with HSP.METHODS:
Mutation detection of MJD1 gene was carried out in 46 AD-HSP families and 58 sporadic cases.RESULTS:
Expanded CAG repeats that ranged from 64 to 81 of MJD1 gene were found in six probands from 46 AD-HSP families (13%, 6/46). No abnormal repeat expansion was found in sporadic cases (0/58). The initial symptoms of six SCA3 cases were all spasticity in the lower limbs, and nystagmus, dysphagia and dysarthria that occurred with disease progression seemed more frequent than HSP.CONCLUSION:
Subtype V of SCA3/MJD is not rare in China, but it is hard to distinguish between HSP and SCA3/MJD only by clinical manifestation and MRI, and MJD1 gene should be detected routinely in the patients diagnosed as HSP in clinic.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Paraplegia
/
Proteínas Repressoras
/
Proteínas Nucleares
/
Doença de Machado-Joseph
/
Expansão das Repetições de Trinucleotídeos
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article