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Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Jan 2016

Daud Shakeela, Kakar Naseebullah, Goebel Ingrid, Hashmi Abu Saeed, Yaqub Tahir, Nürnberg Gudrun, Nürnberg Peter, Morris-Rosendahl Deborah J, Wasim Muhammad, Volk Alexander E, Kubisch Christian, Ahmad Jamil, Borck Guntram

Abstract excerpt

Biallelic mutations of ALS2 cause a clinical spectrum of overlapping autosomal recessive neurodegenerative disorders: infantile-onset ascending hereditary spastic paralysis (IAHSP), juvenile primary lateral sclerosis (JPLS), and juvenile amyotrophic lateral sclerosis (ALS2). We report on eleven individuals affected with IAHSP from two consanguineous Pakistani families. A combination of linkage analysis with...

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Identifiers

PMID: 26751646
DOI: 10.3109/21678421.2015.1125501

Genes

ALS2

Variants

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