PuSH - Publication Server of Helmholtz Zentrum München: Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: Data from the German mitoNET registry.

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Altmann, J.* ; Büchner, B.* ; Nadaj-Pakleza, A.* ; Schäfer, J.* ; Jackson, S.H.* ; Lehmann, D.* ; Deschauer, M.* ; Kopajtich, R. ; Lautenschläger, R.* ; Kuhn, K.A.* ; Karle, K.* ; Schöls, L.* ; Schulz, J.B.* ; Weis, J.* ; Prokisch, H. ; Kornblum, C.* ; Claeys, K.G.* ; Klopstock, T.*

Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: Data from the German mitoNET registry.

J. Neurol. 263, 961-972 (2016)

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The m.8344A>G mutation in the MTTK gene, which encodes the mitochondrial transfer RNA for lysine, is traditionally associated with myoclonic epilepsy and ragged-red fibres (MERRF), a multisystemic mitochondrial disease that is characterised by myoclonus, seizures, cerebellar ataxia, and mitochondrial myopathy with ragged-red fibres. We studied the clinical and paraclinical phenotype of 34 patients with the m.8344A>G mutation, mainly derived from the nationwide mitoREGISTER, the multicentric registry of the German network for mitochondrial disorders (mitoNET). Mean age at symptom onset was 24.5 years ±10.9 (6-48 years) with adult onset in 75 % of the patients. In our cohort, the canonical features seizures, myoclonus, cerebellar ataxia and ragged-red fibres that are traditionally associated with MERRF, occurred in only 61, 59, 70, and 63 % of the patients, respectively. In contrast, other features such as hearing impairment were even more frequently present (72 %). Other common features in our cohort were migraine (52 %), psychiatric disorders (54 %), respiratory dysfunction (45 %), gastrointestinal symptoms (38 %), dysarthria (36 %), and dysphagia (35 %). Brain MRI revealed cerebral and/or cerebellar atrophy in 43 % of our patients. There was no correlation between the heteroplasmy level in blood and age at onset or clinical phenotype. Our findings further broaden the clinical spectrum of the m.8344A>G mutation, document the large clinical variability between carriers of the same mutation, even within families and indicate an overlap of the phenotype with other mitochondrial DNA-associated syndromes.

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