Multigeneration family with dominant SPG30 hereditary spastic paraplegia.
Ann Clin Transl Neurol
; 4(11): 821-824, 2017 11.
Article
em En
| MEDLINE
| ID: mdl-29159194
ABSTRACT
Autosomal recessive KIF1A missense mutations cause hereditary spastic paraplegia (HSP) type SPG30, while recessive truncations lead to sensory and autonomic neuropathy (HSN2C) and many de novo missense mutations are associated with cognitive impairment. Here, we describe family members across three generations with pure HSP. A heterozygous p.Ser69Leu KIF1A mutation segregates with those afflicted. The same variant was previously reported in a Finnish father and son with pure HSP as well as four members of a Sicilian kindred with more intrafamilial phenotypic variability. This further validates the pathogenicity of the p.Ser69Leu mutation and suggests that it may represent a mutation hot spot.
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1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Ann Clin Transl Neurol
Ano de publicação:
2017
Tipo de documento:
Article