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.
| Original language | English |
|---|---|
| Pages (from-to) | 353-357 |
| Number of pages | 5 |
| Journal | Brain and Development |
| Volume | 28 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jul 2006 |
| Externally published | Yes |
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Keywords
- Action tremor
- Ataxia
- Atonic seizures
- Chromosome 12
- Epilepsy
- Linkage analysis
- Progressive myoclonus epilepsy
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Neurology
Cite this
A distinct autosomal recessive ataxia maps to chromosome 12in an inbred family from Jordan. / El-Shanti, Hatem; Daoud, Azhar; Sadoon, Ammar A.; Leal, Suzanne M.; Chen, Shan; Lee, Kwanghyuk; Spiegel, Ronald.
In: Brain and Development, Vol. 28, No. 6, 07.2006, p. 353-357.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A distinct autosomal recessive ataxia maps to chromosome 12in an inbred family from Jordan
AU - El-Shanti, Hatem
AU - Daoud, Azhar
AU - Sadoon, Ammar A.
AU - Leal, Suzanne M.
AU - Chen, Shan
AU - Lee, Kwanghyuk
AU - Spiegel, Ronald
PY - 2006/7
Y1 - 2006/7
N2 - 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.
AB - 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.
KW - Action tremor
KW - Ataxia
KW - Atonic seizures
KW - Chromosome 12
KW - Epilepsy
KW - Linkage analysis
KW - Progressive myoclonus epilepsy
UR - http://www.scopus.com/inward/record.url?scp=33646488506&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33646488506&partnerID=8YFLogxK
U2 - 10.1016/j.braindev.2005.11.003
DO - 10.1016/j.braindev.2005.11.003
M3 - Article
VL - 28
SP - 353
EP - 357
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 6
ER -