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Multigeneration family with dominant SPG30 hereditary spastic paraplegia.

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.

SUBMITTER: Roda RH

PROVIDER: S-EPMC5682118 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature

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Multigeneration family with dominant SPG30 hereditary spastic paraplegia.

Roda Ricardo H RH Schindler Alice B AB Blackstone Craig C

Annals of clinical and translational neurology 20171014 11

Autosomal recessive <i>KIF1A</i> 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 <i>KIF1A</i> mutation segregates with those afflicted. The same variant was previously reported in a Finnish father and son with pure HSP as ...[more]

PMID: 29159194

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