Mitochondrial dysfunction with myoclonus epilepsy and ragged-red fibers point mutation in nerve, muscle, and adipose tissue of a patient with multiple symmetric lipomatosis

Muscle & Nerve
M NaumannH Reichmann

Abstract

We report a 64-year-old man presenting with multiple symmetric lipomatosis (MSL) and mitochondrial encephalomyoneuropathy. The diagnosis of a mitochondrial cytopathy was based on the typical clinical symptoms and signs, including chronic progressive external ophthalmoplegia, hearing impairment, cerebellar ataxia, proximal myopathy, and polyneuropathy, and on molecular genetic and histological examinations. As a unique finding, the A-->G(8344) myoclonus epilepsy and ragged-red fibers point mutation was found in peripheral nerve, muscle, and adipose tissue. Muscle biopsy revealed multiple ragged-red fibers and other morphological signs of a mitochondrial myopathy. Sural nerve biopsy demonstrated a mixed axonal and demyelinating neuropathy with extensive loss of myelinated fibers and conspicuous onion bulb formations, as well as structural mitochondrial abnormalities on electron microscopy. These findings clearly demonstrate mitochondrial dysfunction in muscle, adipose tissue, and for the first time also in nervous tissue of an MSL patient, and strongly support the concept of mitochondrial cytopathy as one of the possible causes of multiple symmetric lipomatosis.

References

Sep 15, 1992·American Journal of Ophthalmology·A B ThrelkeldO Hurko
May 1, 1991·Annals of Neurology·S F BerkovicG Karpati
Aug 17, 1991·Lancet·A J Robinson, G A Richardson
Dec 14, 1990·Biochemical and Biophysical Research Communications·P SeibelB Kadenbach
Oct 1, 1988·Brain : a Journal of Neurology·M PollockP Frankish
Oct 1, 1987·Journal of the American Academy of Dermatology·T RuzickaO Braun-Falco
Jan 1, 1982·European Neurology·F GemignaniE Govoni
Aug 1, 1994·Muscle & Nerve·P A CalabresiR C Griggs
Apr 1, 1993·Brain Pathology·J M Schröder

❮ Previous
Next ❯

Citations

Dec 3, 2014·Neurologic Clinics·Shin C BehElliot M Frohman
Nov 26, 2003·Muscle & Nerve·Javier ArpaJoaquín Arenas
Mar 16, 2011·Journal of the Neurological Sciences·Josef Finsterer
Nov 14, 2012·Journal of Neuropathology and Experimental Neurology·Anne Vital, Claude Vital
Jul 12, 2005·Muscle & Nerve·Kerrie Schoffer, Ian Grant
Jan 10, 2012·Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG·Cornelia S L MüllerClaudia Pföhler
Apr 13, 2005·Clinical Neurology and Neurosurgery·Josef Finsterer
Feb 7, 2006·Pediatric Neurology·David E SticklerPeter W Stacpoole
Mar 26, 2013·Mitochondrion·C PlummerS F Berkovic
Oct 17, 2009·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Josef Finsterer
Feb 19, 2002·International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity·G EnziS Pigozzo
Dec 12, 2017·Clinical Case Reports·Tina Dysgaard JeppesenJohn Vissing
Nov 28, 2001·Current Infectious Disease Reports·Cecilia M. Shikuma, Bruce Shiramizu
Mar 2, 2010·Internal Medicine·Junpei KobayashiShiro Matsubara
Mar 18, 2003·Journal of Acquired Immune Deficiency Syndromes : JAIDS·Bruce ShiramizuCecilia Shikuma
Mar 16, 2019·Frontiers in Neurology·Olimpia MusumeciAntonio Toscano
Feb 17, 2001·Muscle & Nerve·R A Nardin, D R Johns
Jun 9, 2000·Journal of the Royal Society of Medicine·C E Payne
Nov 22, 2020·Mitochondrion·Jian-Qiang Lu, Mark A Tarnopolsky
Mar 16, 2006·Journal of Cell Science·Sébastien VankoningslooThierry Arnould

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.