A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan

Hatem El-Shanti; Azhar Daoud; Ammar A Sadoon; Suzanne M Leal; Shan Chen; Kwanghyuk Lee; Ronald Spiegel

doi:10.1016/j.braindev.2005.11.003

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A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan

Journal article

Peer reviewed

A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan

Hatem El-Shanti, Azhar Daoud, Ammar A Sadoon, Suzanne M Leal, Shan Chen, Kwanghyuk Lee and Ronald Spiegel

Brain & development (Tokyo. 1979), Vol.28(6), pp.353-357

07/2006

DOI: 10.1016/j.braindev.2005.11.003

PMCID: PMC6143173

PMID: 16376507

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Abstract

Autosomal recessive ataxias are a heterogeneous group of rare disorders characterized by early onset ataxia associated with neurologic, ophthalmologic or systemic signs. The ataxias associated with myoclonus, epilepsy and progressive neurological degeneration are usually included with the progressive myoclonus epilepsies, one of which is Unverricht-Lundborg disease. We identified four siblings with ataxia, juvenile onset progressive action tremor and atonic seizures from a Jordanian family. The mode of inheritance of this syndrome is autosomal recessive. We performed a genome-wide screen for linkage and fine mapped the region that contains the disease locus. The four affected siblings have ataxia noted at the onset of walking with dysarthria and bulbar features, but no cerebellar hypoplasia on MRI. They all developed a fine tremor that progressed to a coarse action tremor, as well as atonic seizures. Treatment with valproate fully controlled the seizures and improved the tremor, but did not change the course of the ataxia. We mapped the gene responsible for this disorder to the pericentromeric region of chromosome 12. A recently described autosomal recessive variant of Unverricht-Lundborg disease also maps to the same region. We discuss the similarities and differences between our family and the family with the Unverricht-Lundborg disease variant.

Epilepsy

Ataxia

Atonic seizures

Action tremor

Chromosome 12

Progressive myoclonus epilepsy

Linkage analysis

Details

Title: Subtitle: A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan
Creators: Hatem El-Shanti - Department of Pediatrics, Division of Medical Genetics, University of Iowa, UIHC, 2615 JCP, 200 Hawkins Drive, Iowa City, IA 52242, USA
Azhar Daoud - Department of Pediatrics, Jordan University of Science and Technology, Irbid, Jordan
Ammar A Sadoon - Department of Pediatrics, Jordan University of Science and Technology, Irbid, Jordan
Suzanne M Leal - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Shan Chen - Department of Pediatrics, University of Iowa, Iowa City, IA, USA
Kwanghyuk Lee - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Ronald Spiegel - Department of Pediatrics, University of Iowa, Iowa City, IA, USA
Resource Type: Journal article
Publication Details: Brain & development (Tokyo. 1979), Vol.28(6), pp.353-357
DOI: 10.1016/j.braindev.2005.11.003
PMID: 16376507
PMCID: PMC6143173
NLM abbreviation: Brain Dev
ISSN: 0387-7604
eISSN: 1872-7131
Language: English
Date published: 07/2006
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984093318302771

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