Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown–Vialetto–Van Laere syndrome
| Autor: | Atchayaram Nalini, Henry Houlden, Kin Y. Mok, Amelie Pandraud |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Madras motor neuron disease Adolescent Hearing Loss Sensorineural Bulbar Palsy Progressive Clinical Neurology C9ORF72 India Riboflavin Disease Article Receptors G-Protein-Coupled 03 medical and health sciences 0302 clinical medicine Brown–Vialetto–Van Laere syndrome C9orf72 Medicine Humans Motor Neuron Disease Child Wasting 030304 developmental biology 0303 health sciences BVVL business.industry Membrane Transport Proteins MMND Motor neuron medicine.disease 3. Good health Solute carrier family Pedigree Riboflavin receptors medicine.anatomical_structure Neurology Mutation Sensorineural hearing loss Female Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Journal of the Neurological Sciences |
| ISSN: | 0022-510X |
| DOI: | 10.1016/j.jns.2013.08.003 |
| Popis: | IntroductionMadras motor neuron disease (MMND), MMND variant (MMNDV) and Familial MMND (FMMND) have a unique geographic distribution predominantly reported from Southern India. The characteristic features are onset in young, weakness and wasting of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. There is a considerable overlap in the phenotype of MMND with Brown–Vialetto–Van Laere syndrome (BVVL) Boltshauser syndrome, Nathalie syndrome and Fazio–Londe syndrome. Recently a number of BVVL cases and families have been described with mutations in two riboflavin transporter genes SLC52A2 and SLC52A3 (solute carrier family 52, riboflavin transporter, member 2 and 3 respectively).Methods and resultsWe 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.ConclusionsThese 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. |
| Databáze: | OpenAIRE |
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