Ganglionopathies Associated with MERRF Syndrome: An Original Report

Article type: Research Article

Authors: Michaud, Maud^a | Stojkovic, Tanya^b | Maisonobe, Thierry^c | Behin, Anthony^b | Rucheton, Benoit^d | Léonard-Louis, Sarah^b | Eymard, Bruno^b | Laforêt, Pascal^{e; f; *}

Affiliations: [a] Department of Neurology, Central Hospital, Neuromuscular Reference Center Nord/Est/Ile de France, Nancy, France | [b] Institute of Myology, Neuromuscular Reference Center Nord/Est/Ile de France, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France | [c] Department of Neurophysiology and Neuropathology, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France | [d] Department of Metabolic Biochemistry, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France | [e] Department of Neurology, Neuromuscular Reference Center Nord/Est/Ile de France, Raymond-Poincaré Teaching Hospital, AP-HP, Garches, Paris Saclay University, France. | [f] INSERM U1179, END-ICAP Versailles Saint-Quentin-en-Yvelines University

Correspondence: [*] Correspondence to: Pr Pascal Laforêt, MD, PhD, Department of Neurology, Neuromuscular Reference Center Nord/Est/Ile de France, Raymond-Poincaré teaching hospital, AP-HP, Garches, France. Tel.: +33(0)1 47 10 77 52 33; E-mail: [email protected].

Abstract: Neuropathies in Myoclonic Epilepsy with Ragged Red Fibers (MERRF) syndrome are frequent but ganglionopathies have never been reported. We retrospectively identified 24 patients with MERRF mutations in the neuromuscular center Nord/Est/Ile de France (Pitié-Salpêtrière, Paris, France). Seventeen nerve conduction studies (NCS) were available. Five patients had MERRF syndrome and ganglionopathy, a pure sensory neuropathy. All of them displayed ataxia and mild clinical sensory abnormalities. Ganglionopathies have been reported in mitochondrial diseases but never in MERRF syndrome. We suggest that patients presenting with ganglionopathy, especially if associated with myopathy, lipomatosis or epilepsy, should be screened for MERRF mutations.

Keywords: MERRF, ganglionopathy, ataxia, myopathy, dorsal root ganglia

DOI: 10.3233/JND-200513

Journal: Journal of Neuromuscular Diseases, vol. 7, no. 4, pp. 419-423, 2020