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Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.

ABSTRACT: Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified by exome sequencing of index cases. The cohort consists of three families with spastic paraplegia type 47 (AP4B1) with a common mutation in two families, a family with spastic paraplegia type 50 (AP4M1), and two male siblings with X-linked spastic paraplegia 2 (PLP1). This work illustrates locus and allelic heterogeneity in five families with hereditary spastic paraplegia.

SUBMITTER: Hebbar M

PROVIDER: S-EPMC6344291 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.

Hebbar Malavika M Shukla Anju A Nampoothiri Sheela S Bielas Stephanie S Girisha Katta M KM

Journal of human genetics 20181018 1

Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified by exome sequencing of index cases. The cohort consists of three families with spastic paraplegia type 47 (AP4B1) with a common mutation in two families, a family with spastic paraplegia type 50 (AP4M1), and two ...[more]

PMID: 30337681

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