Mitochondrial DNA variations in Madras motor neuron disease

Govindaraj, Periyasamy; Nalini, Atchayaram; Krishna, Nithin; Anugula, Sharath; Khan, Nahid Akhtar; Tamang, Rakesh; Gourie‐Devi, M; Brown, Robert H.; Thangaraj, Kumarasamy

doi:10.1016/j.mito.2013.02.003

Cited by 7 publications

(4 citation statements)

References 39 publications

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“…We did not find any changes in our patient’s exome. Mitochondrial DNA variations may have an indirect role in the pathogenesis of MMND ( Govindaraj et al, 2013 ), but we did not check mitochondrial DNA in this case. Additionally, Valmikinathan et al (1973) suggested that the pathophysiology of MMND might be associated with altered citrate metabolism.…”

Section: Discussionmentioning

confidence: 96%

A Madras Motor Neuron Disease Patient With Cerebellar Atrophy: A New Clinical Feature

et al. 2018

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A 34-year-old Chinese Han female complaining of general muscle weakness and wasting for 9 years. She was admitted for aggravation of her symptoms caused by respiratory distress. She also suffered from bulbar palsy. She had no hearing loss, visual problems, or cerebellar signs. Her parents had a consanguineous marriage, though there was no family history of these symptoms. Pure tone audiometric findings demonstrated no definite abnormality. Electromyography demonstrated neurogenic damage. Brain magnetic resonance imaging revealed cerebellar atrophy, dominantly in anterior lobe. Gene sequencing of whole gene exomes was negative. She was finally diagnosed with Madras motor neuron disease (MMND), a rare subtype of motor neuron disease. No definite therapy was available for MMND, and she died of respiratory tract infection 1 year later. Previous studies have shown that cerebellar signs are positive in 17.2% patients of MMND, but no case with cerebellar atrophy has been reported before. Thus, here we describe cerebellar atrophy as a new clinical feature of MMND.

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Section: Discussionmentioning

confidence: 96%

A Madras Motor Neuron Disease Patient With Cerebellar Atrophy: A New Clinical Feature

et al. 2018

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“…[17,18] Further genetic studies need to be undertaken to address the issue of preferential involvement of South Indians. In conclusion, chin fasciculations is a new addition to the clinical profile of MMND.…”

Section: Discussionmentioning

confidence: 99%

Chin fasciculations in Madras motor neuron disease: A new clinical feature

et al. 2013

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The characteristic features of Madras motor neuron disease (MMND) are onset in the young in the first two decades, sporadic occurrence, facial and bulbar paralysis, sensorineural hearing impairment, asymmetrical weakness of limbs and pyramidal signs with a slow progression. The majority of the cases reported are from South India. MMND variant has the additional features of optic atrophy and cerebellar signs. We are reporting a 48 year old female of MMND who had persistent fasciculations of chin, with electromyographic features of fasciculations and fibrillations in mentalis muscle. Chin fasciculations, a rare clinical feature, is now described for the first time in Madras motor neuron disease adding a new feature to the clinical constellation of symptoms.

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“…La forme dite de Madras de maladie motoneuronale, liée à une mutation A8302G dans l'ARNt mitochondrial se traduit par un tableau combinant surdité neurosensorielle, diplégie faciale, dysphagie, dysarthrie, enrouement, amyotrophie linguale, fasciculations [4]. Elle peut également comprendre une atteinte motrice prédominant aux membres supérieurs, des signes pyramidaux, une atrophie optique.…”

Section: Raisonner à Partie De L'atrophie Lingualeunclassified