Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu.
Amyloid
; 10(3): 185-9, 2003 Sep.
Article
em En
| MEDLINE
| ID: mdl-14640031
ABSTRACT
Two sisters from an Italian family shared progressive motor symptoms, preceding the onset of sensory and autonomic disturbances. The familial occurrence of axonal and slowly progressive polyneuropathy led us to consider these patients as candidates for TTR molecular analysis. We found a missense mutation causing Ile68Leu TTR substitution in both. The aims of this work are to report the possibility of a motor onset of amyloid polyneuropathy and to suggest the search for TTR mutations in familial cases of axonal polyneuropathy. Second, to stress the possible occurrence of amyloid within the spinal canal as the potential pathogenesis and responsible for motor presentation.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Pré-Albumina
/
Mutação Puntual
/
Neuropatias Amiloides Familiares
/
Atividade Motora
Limite:
Adult
/
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Amyloid
Assunto da revista:
BIOQUIMICA
Ano de publicação:
2003
Tipo de documento:
Article
País de afiliação:
Itália