Universität zu Köln

Daud, Shakeela, Kakar, Naseebullah, Goebel, Ingrid, Hashmi, Abu Saeed, Yaqub, Tahir ORCID: 0000-0001-8698-3818, Nuernberg, Gudrun, Nuernberg, Peter, Morris-Rosendahl, Deborah J., Wasim, Muhammad, Volk, Alexander E., Kubisch, Christian ORCID: 0000-0003-4220-0978, Ahmad, Jainil and Borck, Guntram (2016). Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia. Amyotroph. Lateral Scher. Frontotemp. Degenerat., 17 (3-4). S. 260 - 266. ABINGDON: TAYLOR & FRANCIS LTD. ISSN 2167-9223

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Abstract

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 homozygosity mapping and targeted sequencing identified two novel ALS2 mutations, a c.194T>C (p.Phe65Ser) missense substitution located in the first RCC-like domain of ALS2/alsin and a c.2998delA (p.Ile1000*) nonsense mutation. This study of extended families including a total of eleven affected individuals suggests that a given ALS2 mutation may lead to a phenotype with remarkable intrafamilial clinical homogeneity.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Daud, Shakeela UNSPECIFIED UNSPECIFIED UNSPECIFIED Kakar, Naseebullah UNSPECIFIED UNSPECIFIED UNSPECIFIED Goebel, Ingrid UNSPECIFIED UNSPECIFIED UNSPECIFIED Hashmi, Abu Saeed UNSPECIFIED UNSPECIFIED UNSPECIFIED Yaqub, Tahir UNSPECIFIED orcid.org/0000-0001-8698-3818 UNSPECIFIED Nuernberg, Gudrun UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Morris-Rosendahl, Deborah J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wasim, Muhammad UNSPECIFIED UNSPECIFIED UNSPECIFIED Volk, Alexander E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kubisch, Christian UNSPECIFIED orcid.org/0000-0003-4220-0978 UNSPECIFIED Ahmad, Jainil UNSPECIFIED UNSPECIFIED UNSPECIFIED Borck, Guntram UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-283554
DOI:	10.3109/21678421.2015.1125501
Journal or Publication Title:	Amyotroph. Lateral Scher. Frontotemp. Degenerat.
Volume:	17
Number:	3-4
Page Range:	S. 260 - 266
Date:	2016
Publisher:	TAYLOR & FRANCIS LTD
Place of Publication:	ABINGDON
ISSN:	2167-9223
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language BULBAR INVOLVEMENT; CLINICAL-FEATURES; LATERAL-SCLEROSIS; NONSENSE MUTATION; PARALYSIS; GENE Multiple languages Clinical Neurology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/28355