Abstract | INTRODUCTION: METHODS AND RESULTS: We describe six families and four sporadic MMND cases that have been clinically characterized in detail with history, examination, imaging and electrophysiological investigations. We sequenced the SLC52A1, SLC52A2 and SLC52A3 in affected probands and sporadic individuals from the MMND series as well as the C9ORF72 expansion. No genetic defects were identified and the C9ORF72 repeats were all less than 10. CONCLUSIONS: These data suggest that MMND is a distinct clinical subgroup of childhood onset MND patients where the known genetic defects are so far negative. The clinico-genetic features of MMND in comparison with the BVVL group of childhood motor neuron diseases suggest that these diseases are likely to share a common defective biological pathway that may be a combination of genetic and environmental factors.
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Authors | Atchayaram Nalini, Amelie Pandraud, Kin Mok, Henry Houlden |
Journal | Journal of the neurological sciences
(J Neurol Sci)
Vol. 334
Issue 1-2
Pg. 119-22
(Nov 15 2013)
ISSN: 1878-5883 [Electronic] Netherlands |
PMID | 24139842
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2013 Published by Elsevier B.V. |
Chemical References |
- Membrane Transport Proteins
- Receptors, G-Protein-Coupled
- SLC52A2 protein, human
- SLC52A3 protein, human
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Topics |
- Adolescent
- Adult
- Bulbar Palsy, Progressive
(genetics)
- Child
- Female
- Hearing Loss, Sensorineural
(genetics)
- Humans
- India
- Male
- Membrane Transport Proteins
(genetics)
- Motor Neuron Disease
(genetics)
- Mutation
- Pedigree
- Receptors, G-Protein-Coupled
(genetics)
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