Locus and allelic heterogeneity in five families with hereditary spastic paraplegia

Malavika Hebbar, Anju Shukla, Sheela Nampoothiri, Stephanie Bielas, Katta M. Girisha

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)17-21
Number of pages5
JournalJournal of Human Genetics
Volume64
Issue number1
DOIs
Publication statusPublished - 01-01-2019

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Hereditary Spastic Paraplegia
Paraplegia
Exome
Nervous System Diseases
Lower Extremity
Mutation

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Hebbar, Malavika ; Shukla, Anju ; Nampoothiri, Sheela ; Bielas, Stephanie ; Girisha, Katta M. / Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. In: Journal of Human Genetics. 2019 ; Vol. 64, No. 1. pp. 17-21.
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Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. / Hebbar, Malavika; Shukla, Anju; Nampoothiri, Sheela; Bielas, Stephanie; Girisha, Katta M.

In: Journal of Human Genetics, Vol. 64, No. 1, 01.01.2019, p. 17-21.

Research output: Contribution to journalArticle

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