Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion.
J Neurol Sci
; 131(1): 30-4, 1995 Jul.
Article
em En
| MEDLINE
| ID: mdl-7561944
ABSTRACT
We examined for the presence of 17p11.2 deletion, by Southern blotting and fluorescent in situ hybridization, 3 cases with progressive sensory-motor polyneuropathy and diffuse tomaculous changes at sural nerve biopsy. We demonstrated in all the cases the 17p11.2 deletion, previously reported in hereditary neuropathy with pressure palsy, an inherited disorder of the peripheral nervous system with similar pathologic changes but a different clinical phenotype. The molecular study of the 17p11.2 region should be considered as a non invasive method for differential diagnosis in selected cases of progressive polyneuropathy.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neuropatia Hereditária Motora e Sensorial
/
Deleção de Genes
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Aged
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
J Neurol Sci
Ano de publicação:
1995
Tipo de documento:
Article