Top

Published in:

01-08-2018 | Commentary

Cerebellar atrophy is common among mitochondrial disorders

Authors: Josef Finsterer, Sinda Zarrouk-Mahjoub

Published in: Metabolic Brain Disease | Issue 4/2018

Excerpt

We read with interest the article by Inbar-Feigenberg about two siblings carrying the same POLG1 mutations inherited from their consanguineous parents. Both siblings presented with cerebellar atrophy (Inbar-Feigenberg et al. 2018). We have the following comments and concerns. …

Bindu PS, Arvinda H, Taly AB, Govindaraju C, Sonam K, Chiplunkar S, Kumar R, Gayathri N, Bharath Mm S, Nagappa M, Sinha S, Khan NA, Govindaraj P, Nunia V, Paramasivam A, Thangaraj K (2015) Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India. Mitochondrion 25:6–16CrossRefPubMed

Finsterer J, Scorza FA (2018) Phenotypic spectrum of POLG1 mutations. Neurol Sci 39:571–573CrossRefPubMed

Inbar-Feigenberg M, Blaser S, Hawkins C, Shannon P, Hewson S, Chitayat D (2018) Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest. Metab Brain Dis. https://doi.org/10.1007/s11011-018-0218-2

Mehta AR, Fox SH, Tarnopolsky M, Yoon G (2011) Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype. Mov Disord 26:753–755CrossRefPubMed

Tsujikawa K, Senda J, Yasui K, Hasegawa Y, Hoshiyama M, Katsuno M, Sobue G (2016) Distinctive distribution of brain volume reductions in MELAS and mitochondrial DNA A3243G mutation carriers: A voxel-based morphometric study. Mitochondrion 30:229–235CrossRefPubMed

Ito S, Shirai W, Asahina M, Hattori T (2008) Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation. AJNR Am J Neuroradiol 29:392–395CrossRefPubMed

Haginoya K, Kaneta T, Togashi N, Hino-Fukuyo N, Kobayashi T, Uematsu M, Kitamura T, Inui T, Okubo Y, Takezawa Y, Anzai M, Endo W, Miyake N, Saitsu H, Matsumoto N, Kure S (2016) FDG-PET study of patients with Leigh syndrome. J Neurol Sci 362:309–313CrossRefPubMed

Fromont I, Nicoli F, Valéro R, Felician O, Lebail B, Lefur Y, Mancini J, Paquis-Flucklinger V, Cozzone PJ, Vialettes B (2009) Brain anomalies in maternally inherited diabetes and deafness syndrome. J Neurol 256:1696–1704CrossRefPubMed

Mitani M, Jinnai K, Takahashi K, Koide R, Tsuji S (2000) A case of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) with a T-to-C point mutation at nt 8993 of mitochondrial DNA. Rinsho Shinkeigaku 40:600–604 PubMed

Heidenreich JO, Klopstock T, Schirmer T, Saemann P, Mueller-Felber W, Auer DP (2006) Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain. AJR Am J Roentgenol 187:820–824CrossRefPubMed

Lv ZY, Xu XM, Cao XF, Wang Q, Sun DF, Tian WJ, Yang Y, Wang YZ, Hao YL (2017) Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report. Medicine (Baltimore) 96(48):e8869. https://doi.org/10.1097/MD.0000000000008869 CrossRef

Müller W, Mennel HD, Bewermeyer K, Bewermeyer H (2003) Is there a final common pathway in mitochondrial encephalomyopathies? Considerations based on an autopsy case of Kearns-Sayre syndrome. Clin Neuropathol 22:240–245PubMed

Nakaso K, Adachi Y, Fusayasu E, Doi K, Imamura K, Yasui K, Nakashima K (2012) Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA. J Clin Neurol 8:230–234CrossRefPubMedPubMedCentral

Koskinen T, Valanne L, Ketonen LM, Pihko H (1995) Infantile-onset spinocerebellar ataxia: MR and CT findings. AJNR Am J Neuroradiol 16:1427–1433PubMed

Lühl S, Bode H, Schlötzer W, Bartsakoulia M, Horvath R, Abicht A, Stenzel M, Kirschner J, Grünert SC (2016) Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum. Orphanet J Rare Dis 11:140CrossRefPubMedPubMedCentral

Roubertie A, Leboucq N, Picot MC, Nogue E, Brunel H, Le Bars E, Manes G, Angebault Prouteau C, Blanchet C, Mondain M, Chevassus H, Amati-Bonneau P, Sarzi E, Pagès M, Villain M, Meunier I, Lenaers G, Hamel CP (2015) Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction. J Neurol Sci 349:154–160CrossRefPubMed

Hershey T, Lugar HM, Shimony JS, Rutlin J, Koller JM, Perantie DC, Paciorkowski AR, Eisenstein SA, Permutt MA, Washington University Wolfram Study Group (2012) Early brain vulnerability in Wolfram syndrome. PLoS One 7(7):e40604. https://doi.org/10.1371/journal.pone.0040604

Ngoh A, Bras J, Guerreiro R, Meyer E, McTague A, Dawson E, Mankad K, Gunny R, Clayton P, Mills PB, Thornton R, Lai M, Forsyth R, Kurian MA (2016) RARS2 mutations in a sibship with infantile spasms. Epilepsia 57:e97–e102CrossRefPubMedPubMedCentral

Nguyen M, Boesten I, Hellebrekers DM, Mulder-den Hartog NM, de Coo IF, Smeets HJ, Gerards M (2017) Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder. Clin Genet 91:121–125CrossRefPubMed

Chung WK, Martin K, Jalas C, Braddock SR, Juusola J, Monaghan KG, Warner B, Franks S, Yudkoff M, Lulis L, Rhodes RH, Prasad V, Torti E, Cho MT, Shinawi M (2015) Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. J Med Genet 52:627–635CrossRefPubMed

Schottmann G, Picker-Minh S, Schwarz JM, Gill E, Rodenburg RJT, Stenzel W, Kaindl AM, Schuelke M (2017) Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. Mitochondrion 37:46–54CrossRefPubMed

Title: Cerebellar atrophy is common among mitochondrial disorders
Authors: Josef Finsterer
Sinda Zarrouk-Mahjoub
Publication date: 01-08-2018
Publisher: Springer US
Published in: Metabolic Brain Disease / Issue 4/2018
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-018-0238-y

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Cerebellar atrophy is common among mitochondrial disorders

Excerpt

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 4/2018

Comparative effect of coffee robusta and coffee arabica (Qahwa) on memory and attention

A novel compound-primed multiplex ARMS-PCR (CPMAP) for simultaneous detection of common PAH gene mutations

Role of microglia under cardiac and cerebral ischemia/reperfusion (I/R) injury

Cortical and subcortical gray matter structural alterations in normoglycemic obese and type 2 diabetes patients: relationship with adiposity, glucose, and insulin

Analysis of cerebral blood flow and intracranial hypertension in critical patients with non-hepatic hyperammonemia

Probiotic treatment reduces the autistic-like excitation/inhibition imbalance in juvenile hamsters induced by orally administered propionic acid and clindamycin