NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study

Acta Neuropathologica
A RojoI Ferrer

Abstract

The 8993 T>G mutation in mitochondrial DNA has been associated with variable syndromes of differing severity ranging from maternally inherited Leigh's syndrome (MILS) to neuropathy, ataxia, retinitis pigmentosa (NARP), depending on the mutation loads in affected patients. We report a kindred with several members in the same generation suffering NARP or Leigh's syndrome due to a 8993 T>G mutation. Post-mortem studies of the brain in one affected member clinically presenting with a neurological disorder intermediate between adult Leigh's syndrome and NARP showed symmetrical lesions of the basal ganglia and brainstem closely resembling those usually described in typical Leigh's syndrome. Analysis of mtDNA in different tissues showed a high proportion of mutant genome in brainstem, cerebral cortex, putamen, cerebellum and thalamus. These observations illustrate the continuum of clinical and neuropathological manifestations associated with the 8993 T>G mutation of the mtDNA.

References

Jan 1, 1994·European Journal of Human Genetics : EJHG·Y TatuchB H Robinson
Dec 1, 1993·Annals of Neurology·F M SantorelliS DiMauro
Jan 1, 1997·Nucleic Acids Research·A M KogelnikD C Wallace
Jul 1, 1997·Neurology·F M SantorelliS DiMauro
Apr 20, 1999·Acta Neuropathologica·T NagashimaK Nagashima
Jul 27, 1999·American Journal of Human Genetics·S L WhiteD R Thorburn
Dec 22, 1999·Journal of Inherited Metabolic Disease·S L WhiteD R Thorburn
Jun 27, 2003·The New England Journal of Medicine·Salvatore DiMauro, Eric A Schon
Jan 15, 2004·Neuromuscular Disorders : NMD·Serenella Servidei
Sep 11, 2004·Brain : a Journal of Neurology·Massimo Zeviani, Stefano Di Donato

❮ Previous
Next ❯

Citations

Oct 19, 2010·Journal of Neurology·Jeffrey M GelfandAri J Green
Aug 12, 2009·Sleep & Breathing = Schlaf & Atmung·Christy Shuk-kuen ChauYuet-Ping Yuen
Sep 21, 2013·Lancet Neurology·Davide PareysonMassimo Zeviani
Oct 17, 2009·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Josef Finsterer
Dec 30, 2015·Heart Failure Reviews·Ying-Han R HsuGavin Y Oudit
Sep 23, 2008·Pediatric Neurology·Josef Finsterer
Jun 24, 2008·Journal of the Neurological Sciences·Josef Finsterer
Sep 6, 2013·British Journal of Pharmacology·Russell H Swerdlow
May 10, 2017·Human Molecular Genetics·Patrick Yu-Wai-Man, Nancy J Newman
Mar 23, 2012·Developmental Medicine and Child Neurology·Manoj P Menezes, Robert A Ouvrier
Jan 3, 2019·The Journal of Clinical Investigation·Estela Area-GomezSerge Przedborski
Feb 12, 2017·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Patrick Yu-Wai-Man
Nov 21, 2017·Journal of Alzheimer's Disease : JAD·Isidro Ferrer
Oct 7, 2006·Neurochemical Research·Mark P Mattson
Apr 20, 2018·Frontiers in Physiology·Alain DautantRoza Kucharczyk
Mar 19, 2021·Neurology. Genetics·Helene BruhnAnna Wredenberg
Aug 4, 2009·Biochimica Et Biophysica Acta·Helen E TurnbullDoug M Turnbull

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxias (MDS)

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 ataxia here.

Ataxia

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 ataxia here.

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.

Basal Ganglia

Basal Ganglia are a group of subcortical nuclei in the brain associated with control of voluntary motor movements, procedural and habit learning, emotion, and cognition. Here is the latest research.