Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause?

. 2016 ; 6 () : 376. [epub] 20160623

Status PubMed-not-MEDLINE Jazyk angličtina Země Anglie, Velká Británie Médium electronic-ecollection

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/pmid27375960

Basic epilepsy teachings assert that seizures arise from the cerebral cortex, glossing over infratentorial structures such as the cerebellum that are believed to modulate rather than generate seizures. Nonetheless, ataxia and other clinical findings in epileptic patients are slowly but inevitably drawing attention to this neural node. Tracing the evolution of this line of inquiry from the observed coincidence of cerebellar atrophy and cerebellar dysfunction (most apparently manifested as ataxia) in epilepsy to their close association, this review considers converging clinical, physiological, histological, and neuroimaging evidence that support incorporating the cerebellum into epilepsy pathology. We examine reports of still controversial cerebellar epilepsy, studies of cerebellar stimulation alleviating paroxysmal epileptic activity, studies and case reports of cerebellar lesions directly associated with seizures, and conditions in which ataxia is accompanied by epileptic seizures. Finally, the review substantiates the role of this complex brain structure in epilepsy whether by coincidence, as a consequence of deleterious cortical epileptic activity or antiepileptic drugs, or the very cause of the disease.

Erratum v

PubMed

Zobrazit více v PubMed

Strick PL, Dum RP, Fiez JA. Cerebellum and nonmotor function. Annu Rev Neurosci. 2009;32:413–434. doi: 10.1146/annurev.neuro.31.060407.125606. PubMed DOI

Schmahmann JD. The role of the cerebellum in cognition and emotion: personal reflections since 1982 on the Dysmetria of thought hypothesis, and its historical evolution from theory to therapy. Neuropsychol Rev. 2010;20:236–260. doi: 10.1007/s11065-010-9142-x. PubMed DOI

Bostan AC, Dum RP, Strick PL. The basal ganglia communicate with the cerebellum. Proc Natl Acad Sci. 2010;107:8452–8456. doi: 10.1073/pnas.1000496107. PubMed DOI PMC

Middleton FA, Strick PL. Cerebellar projections to the prefrontal cortex of the primate. J Neurosci. 2001;21:700–712. PubMed PMC

Wu T, Hallett M. The cerebellum in Parkinson’s disease. Brain. 2013;136:696–709. doi: 10.1093/brain/aws360. PubMed DOI PMC

Filip P, Lungu OV, Bareš M. Dystonia and the cerebellum: a new field of interest in movement disorders. Clin Neurophysiol. 2013;124:1269–1276. doi: 10.1016/j.clinph.2013.01.003. PubMed DOI

Mothersill O, Knee-Zaska C, Donohoe G. Emotion and theory of mind in schizophrenia-investigating the role of the cerebellum. Cerebellum. 2016;15:357–368. doi: 10.1007/s12311-015-0696-2. PubMed DOI

Filip P, Lungu OV, Manto MU, Bareš M. Linking essential tremor to the cerebellum: physiological evidence. Cerebellum. 2015 Nov 3; [Epub ahead of print] doi: 10.1007/s12311-015-0740-2. PubMed DOI

Wong JC, Escayg A. Illuminating the cerebellum as a potential target for treating epilepsy. Epilepsy Curr. 2015;15:277–278. doi: 10.5698/1535-7511-15.5.277. PubMed DOI PMC

Dow RS, Fernandez-Guardiola A, Manni E. The influence of the cerebellum on experimental epilepsy. Electroencephalogr Clin Neurophysiol. 1962;14:383–398. doi: 10.1016/0013-4694(62)90115-3. PubMed DOI

Hutton JT, Frost JD, Jr, Foster J. The influence of the cerebellum in cat penicillin epilepsy. Epilepsia. 1972;13:401–408. doi: 10.1111/j.1528-1157.1972.tb04580.x. PubMed DOI

Mesiwala AH, Kuratani JD, Avellino AM, Roberts TS, Sotero MA, Ellenbogen RG. Focal motor seizures with secondary generalization arising in the cerebellum. Case report and review of the literature. J Neurosurg. 2002;97:190–196. doi: 10.3171/jns.2002.97.1.0190. PubMed DOI

Young GB, Oppenheimer SR, Gordon BA, et al. Ataxia in institutionalized patients with epilepsy. Can J Neurol Sci. 1994;21:252–258. doi: 10.1017/S0317167100041238. PubMed DOI

Matsumoto M, Nakagawa T, Inoue T, et al. Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor. Nature. 1996;379:168–171. doi: 10.1038/379168a0. PubMed DOI

Pena SD, Coimbra RL. Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. Clin Genet. 2015;87:e1–3. doi: 10.1111/cge.12542">10.1111/cge.12542">10.1111/cge.12542. PubMed DOI

Cross JH, Arora R, Heckemann RA, et al. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. Dev Med Child Neurol. 2013;55:846–856. doi: 10.1111/dmcn.12171. PubMed DOI PMC

Farhan SM, Murphy LM, Robinson JF, et al. Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. Epilepsia. 2014;55:e106–111. doi: 10.1111/epi.12730. PubMed DOI

Berkovic SF. Genetics of epilepsy in clinical practice. Epilepsy Curr. 2015;15:192–196. doi: 10.5698/1535-7511-15.4.192. PubMed DOI PMC

Liao Y, Anttonen AK, Liukkonen E, et al. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology. 2010;75:1454–1458. doi: 10.1212/WNL.0b013e3181f8812e. PubMed DOI

Imbrici P, Jaffe SL, Eunson LH, et al. Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. Brain. 2004;127:2682–2692. doi: 10.1093/brain/awh301. PubMed DOI

Leshinsky-Silver E, Shuvalov R, Inbar S, Cohen S, Lev D, Lerman-Sagie T. Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence. J Child Neurol. 2011;26:476–481. doi: 10.1177/0883073810384615. PubMed DOI

Joensuu T, Tegelberg S, Reinmaa E, et al. Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation. PLoS One. 2014;9:e89321. doi: 10.1371/journal.pone.0089321. PubMed DOI PMC

Ortolano S, Vieitez I, Agis-Balboa RC, Spuch C. Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease. Mol Brain. 2014;7:7. doi: 10.1186/1756-6606-7-7. PubMed DOI PMC

Mole SE, Williams RE. Neuronal ceroid-lipofuscinoses. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews(®) [Internet] Seattle, WA: University of Washington; 1993. [cited 2015 Aug 23] Available from: http://www.ncbi.nlm.nih.gov/books/NBK1428/

Yadid G, Sotnik-Barkai I, Tornatore C, et al. Neurochemical alterations in the cerebellum of a murine model of Niemann–Pick type C disease. Brain Res. 1998;799((2)):250–256. doi: 10.1016/S0006-8993(98)00449-1. PubMed DOI

Badhwar A, Berkovic SF, Dowling JP, et al. Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder. Brain. 2004;127:2173–2182. doi: 10.1093/brain/awh263. PubMed DOI

Finsterer J, Zarrouk Mahjoub S. Epilepsy in mitochondrial disorders. Seizure. 2012;21:316–321. doi: 10.1016/j.seizure.2012.03.003. PubMed DOI

Pérez-Dueñas B, Toma C, Ormazábal A, et al. Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene. J Inherit Metab Dis. 2010;33:795–802. doi: 10.1007/s10545-010-9196-1. PubMed DOI

Müller KI, Bekkelund SI. Epilepsy in a patient with ataxia caused by vitamin E deficiency. BMJ Case Rep. 2011;2011:pii. bcr0120113728. doi: 10.1136/bcr.01.2011.3728. PubMed DOI PMC

Sen S, Keough K, Gibson J. Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia. Neurology. 2015;84:e111–e114. doi: 10.1212/WNL.0000000000001467. PubMed DOI

Javed S, Safdar A, Forster A, et al. Refractory coeliac disease associated with late onset epilepsy, ataxia, tremor and progressive myoclonus with giant cortical evoked potentials-a case report and review of literature. Seizure. 2012;21:482–485. doi: 10.1016/j.seizure.2012.04.003. PubMed DOI

Bhatia KP, Brown P, Gregory R, et al. Progressive myoclonic ataxia associated with coeliac disease. The myoclonus is of cortical origin, but the pathology is in the cerebellum. Brain. 1995;118:1087–1093. doi: 10.1093/brain/118.5.1087. PubMed DOI

Nanri K, Shibuya M, Taguchi T, Hasegawa A, Tanaka N. Selective loss of Purkinje cells in a patient with anti-gliadin-antibody-positive autoimmune cerebellar ataxia. Diagn Pathol. 2011;6:14. doi: 10.1186/1746-1596-6-14. PubMed DOI PMC

McFarland KN, Liu J, Landrian I, et al. Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics. 2014;15:59–64. doi: 10.1007/s10048-013-0385-6. PubMed DOI PMC

Teive HA, Munhoz RP, Raskin S, et al. Spinocerebellar ataxia type 10: frequency of epilepsy in a large sample of Brazilian patients. Mov Disord. 2010;25:2875–2878. doi: 10.1002/mds.23324. PubMed DOI PMC

Lin X, Ashizawa T. Recent progress in spinocerebellar ataxia type-10 (SCA10) Cerebellum. 2005;4:37–42. doi: 10.1080/14734220510007897. PubMed DOI

Georgieva Z, Parton M. Cerebellar ataxia and epilepsy with anti-GAD antibodies: treatment with IVIG and plasmapheresis. BMJ Case Rep. 2014;2014:pii. bcr2013202314. doi: 10.1136/bcr-2013-202314. PubMed DOI PMC

Fonnum F, Storm-Mathisen J, Walberg F. Glutamate decarboxylase in inhibitory neurons. A study of the enzyme in Purkinje cell axons and boutons in the cat. Brain Res. 1970;20:259–275. doi: 10.1016/0006-8993(70)90293-3. PubMed DOI

Dam M, Bolwig T, Hertz M, Bajorec J, Lomax P, Dam AM. Does seizure activity produce Purkinje cell loss. Epilepsia. 1984;25:747–751. doi: 10.1111/j.1528-1157.1984.tb03486.x. PubMed DOI

Dogan VB. An anti-GAD autoantibody-associated cerebellar syndrome case: a curable cause of ataxia. Neurol Sci. 2015;36:1929–1931. doi: 10.1007/s10072-015-2280-4. PubMed DOI

Bürk K, Strzelczyk A, Reif PS, et al. Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13) Int J Neurosci. 2013;123:278–282. doi: 10.3109/00207454.2012.755180. PubMed DOI

Belluzzo M, Musho-Ilbeh S, Monti F, Pizzolato G. A case of nocturnal frontal lobe epilepsy in a patient with spinocerebellar ataxia type 17. Seizure. 2012;21:805–806. doi: 10.1016/j.seizure.2012.08.006. PubMed DOI

Golomb MR, Illner A, Christensen CK, Walsh LE. A child with Friedreich’s ataxia and epilepsy. J Child Neurol. 2005;20:248–250. doi: 10.1177/08830738050200031201. PubMed DOI

Bennett HS, Selman JE, Rapin I, Rose A. Nonconvulsive epileptiform activity appearing as ataxia. Am J Dis Child. 1982;136:30–32. doi: 10.1001/archpedi.1982.03970460018003. PubMed DOI

Spielmeyer W. The anatomic substratum of the convulsive state. Arch Neurol Psychiatry. 1930;23:869–875. doi: 10.1001/archneurpsyc.1930.02220110025002. DOI

Selhorst JB, Kaufman B, Horwitz SJ. Diphenylhydantoin-induced cerebellar degeneration. Arch Neurol. 1972;27:453–455. doi: 10.1001/archneur.1972.00490170085012. PubMed DOI

Kessler C, Henningsen H, Reuther R, Christian W. Cerebellar atrophy in epileptic patients: computer tomography study. Fortschr Neurol Psychiatr. 1985;53:437–441. doi: 10.1055/s-2007-1001989. PubMed DOI

Park KM, Han YH, Kim TH, et al. Cerebellar white matter changes in patients with newly diagnosed partial epilepsy of unknown etiology. Clin Neurol Neurosurg. 2015;138:25–30. doi: 10.1016/j.clineuro.2015.07.017. PubMed DOI

Lawson JA, Vogrin S, Bleasel AF, Cook MJ, Bye AME. Cerebral and cerebellar volume reduction in children with intractable epilepsy. Epilepsia. 2000;41:1456–1462. doi: 10.1111/j.1528-1157.2000.tb00122.x. PubMed DOI

Hagemann G, Lemieux L, Free SL, et al. Cerebellar volumes in newly diagnosed and chronic epilepsy. J Neurol. 2002;249:1651–1658. doi: 10.1007/s00415-002-0843-9. PubMed DOI

Salcman M, Defendini R, Correll J, Gilman S. Neuropathological changes in cerebellar biopsies of epileptic patients. Ann Neurol. 1978;3:10–19. doi: 10.1002/ana.410030104. PubMed DOI

Crooks R, Mitchell T, Thom M. Patterns of cerebellar atrophy in patients with chronic epilepsy: a quantitative neuropathological study. Epilepsy Res. 2000;41:63–73. doi: 10.1016/S0920-1211(00)00133-9. PubMed DOI

Li Y, Du H, Xie B, et al. Cerebellum abnormalities in idiopathic generalized epilepsy with generalized tonic-clonic seizures revealed by diffusion tensor imaging. PLoS One. 2010;5:e15219. doi: 10.1371/journal.pone.0015219. PubMed DOI PMC

Bohnen NI, O’Brien TJ, Mullan BP, So EL. Cerebellar changes in partial seizures: clinical correlations of quantitative SPECT and MRI analysis. Epilepsia. 1998;39:640–650. doi: 10.1111/j.1528-1157.1998.tb01433.x. PubMed DOI

Savic I, Altshuler L, Passaro E, Baxter L, Engel J., Jr Localized cerebellar hypometabolism in patients with complex partial seizures. Epilepsia. 1996;37:781–787. doi: 10.1111/j.1528-1157.1996.tb00652.x. PubMed DOI

Won JH, Lee JD, Chung TS, Park CY, Lee BI. Increased contralateral cerebellar uptake of technetium-99m-HMPAO on ictal brain SPECT. J Nucl Med. 1996;37:426–429. PubMed

Shin WC, Hong SB, Tae WS, Seo DW, Kim SE. Ictal hyperperfusion of cerebellum and basal ganglia in temporal lobe epilepsy: SPECT subtraction with MRI coregistration. J Nucl Med. 2001;42:853–858. PubMed

Yu W, Krook-Magnuson E. Cognitive collaborations: bidirectional functional connectivity between the cerebellum and the hippocampus. Front Syst Neurosci. 2015;9:177. doi: 10.3389/fnsys.2015.00177. PubMed DOI PMC

Specht U, May T, Schulz R, et al. Cerebellar atrophy and prognosis after temporal lobe resection. J Neurol Neurosurg Psychiatry. 1997;62:501–506. doi: 10.1136/jnnp.62.5.501. PubMed DOI PMC

Van Gaalen J, Kerstens FG, Maas RP, Härmark L, van de Warrenburg BP. Drug-induced cerebellar ataxia: a systematic review. CNS Drugs. 2014;28:1139–1153. doi: 10.1007/s40263-014-0200-4. PubMed DOI

Awada A, Amene P, al Jumah M, al Beladi K. [Residual cerebellar ataxia following acute phenytoin intoxication] Rev Neurol (Paris) 1999;155:306–308. doi: RNE-04-1999-155-4-0000-0000-101019-ART95. PubMed

Gupta M, Patidar Y, Khwaja GA, Chowdhury D, Batra A, Dasgupta A. Persistent cerebellar ataxia with cerebellar cognitive affective syndrome due to acute phenytoin intoxication: a case report. Neurol Asia. 2013;18:107–111.

Shanmugarajah P, Hoggard N, Howell S, et al. Phenytoin and cerebellar ataxia: not all down to toxicity? J Neurol Neurosurg Psychiatry. 2013;84:e2–e2. doi: 10.1136/jnnp-2013-306573.103. PubMed DOI

Gazulla J, Errea JM, Benavente I, Tordesillas CJ. Treatment of ataxia in cortical cerebellar atrophy with the GABAergic drug gabapentin. A preliminary study. Eur Neurol. 2004;52:7–11. doi: 10.1159/000079252. PubMed DOI

Verma R, Kori P. Valproate-induced encephalopathy with predominant pancerebellar syndrome. Indian J Pharmacol. 2012;44:129–130. doi: 10.4103/0253-7613.91886. PubMed DOI PMC

Shill HA, Fife TD. Valproic acid toxicity mimicking multiple system atrophy. Neurology. 2000;55:1936–1937. doi: 10.1212/WNL.55.12.1936. PubMed DOI

Nakamura K, Yoshida K, Miyazaki D, Morita H, Ikeda S. Spinocerebellar ataxia type 6 (SCA6): clinical pilot trial with gabapentin. J Neurol Sci. 2009;278:107–111. doi: 10.1016/j.jns.2008.12.017. PubMed DOI

Horsley V. Dr. Hughlings Jackson’s views of the functions of the cerebellum, as illustrated by recent research: being the Hughlings Jackson Lecture for 1906. Br Med J. 1907;1:803–808. doi: 10.1136/bmj.1.2414.803. PubMed DOI PMC

McCrory PR, Bladin PF, Berkovic SF. The cerebellar seizures of Hughlings Jackson. Neurology. 1999;52:1888–1890. doi: 10.1212/WNL.52.9.1888. PubMed DOI

Boop S, Wheless J, Van Poppel K, McGregor A, Boop FA. Cerebellar seizures. J Neurosurg Pediatr. 2013;12:288–292. doi: 10.3171/2013.5.PEDS1394. PubMed DOI

Badawy RA, Lai A, Vogrin SJ, Cook MJ. Subcortical epilepsy. Neurology. 2013;80:1901–1907. doi: 10.1212/WNL.0b013e3182929f4f. PubMed DOI

Martins WA, Paglioli E, Hemb M, Palmini A. Dysplastic cerebellar epilepsy: complete seizure control following resection of a ganglioglioma. Cerebellum. 2015 Jul 25; [Epub ahead of print] doi: 10.1007/s12311-015-0705-5. PubMed DOI

Strazzer S, Zucca C, Fiocchi I, Genitori L, Castelli E. Epilepsy and neuropsychologic deficit in a child with cerebellar astrocytoma. J Child Neurol. 2006;21:817–820. doi: 10.1177/08830738060210091701. PubMed DOI

Harvey AS, Jayaka P, Duchowny M, et al. Hemifacial seizures and cerebellar ganglioglioma: an epilepsy syndrome of infancy with seizures of cerebellar origin. Ann Neurol. 1996;40:91–98. doi: 10.1002/ana.410400115. PubMed DOI

Hanai S, Okazaki K, Fujikawa Y, et al. Hemifacial seizures due to ganglioglioma of cerebellum. Brain Dev. 2010;32:499–501. doi: 10.1016/j.braindev.2009.06.005. PubMed DOI

Dagcinar A, Hilmi Kaya A, Ali Taşdemir H, Kuruoglu E, Sabancilar Z, Sav A. A fourth ventricular ganglioneurocytoma representing with cerebellar epilepsy: a case report and review of the literature. Eur J Paediatr Neurol. 2007;11:257–260. doi: 10.1016/j.ejpn.2007.02.005. PubMed DOI

Gan YC, Connolly MB, Steinbok P. Epilepsy associated with a cerebellar arachnoid cyst: seizure control following fenestration of the cyst. Childs Nerv Syst. 2008;24:125–134. doi: 10.1007/s00381-007-0439-x. PubMed DOI

Koh KN, Lim BC, Hwang H, et al. Cerebellum can be a possible generator of progressive myoclonus. J Child Neurol. 2010;25:728–731. doi: 10.1177/0883073809342273. PubMed DOI

Hamberger A, Bock E, Nordborg C, et al. Biochemical correlates to cortical dysplasia, gliosis, and astrocytoma infiltration in human epileptogenic cortex. Neurochem Res. 1993;18((4)):511–518. doi: 10.1007/BF00967255. PubMed DOI

Fountas KN, Kapsalaki E, Hadjigeorgiou G. Cerebellar stimulation in the management of medically intractable epilepsy: a systematic and critical review. Neurosurg Focus. 2010;29:E8. doi: 10.3171/2010.5.FOCUS10111. PubMed DOI

Kros L, Eelkman Rooda OH, De Zeeuw CI, Hoebeek FE. Controlling cerebellar output to treat refractory epilepsy. Trends Neurosci. 2015;38:787–799. doi: 10.1016/j.tins.2015.10.002. PubMed DOI

Rijkers K, Moers-Hornikx VM, Hemmes RJ, et al. Sustained reduction of cerebellar activity in experimental epilepsy. BioMed Res Int. 2015;2015:718591. doi: 10.1155/2015/718591. PubMed DOI PMC

Buijink AWG, Broersma M, van der Stouwe AMM, et al. Cerebellar atrophy in cortical myoclonic tremor and not in hereditary essential tremor – a voxel-based morphometry study. Cerebellum. 2015;30:1–9. doi: 10.1007/s12311-015-0734-0. PubMed DOI PMC

Krook-Magnuson E, Szabo GG, Armstrong C, Oijala M, Soltesz I. Cerebellar directed optogenetic intervention inhibits spontaneous hippocampal seizures in a mouse model of temporal lobe epilepsy. eNeuro. 2014;1:pii. e.2014. doi: 10.1523/eneuro.0005-14.2014. PubMed DOI PMC

Brighina F, Daniele O, Piazza A, Giglia G, Fierro B. Hemispheric cerebellar rTMS to treat drug-resistant epilepsy: case reports. Neurosci Lett. 2006;397:229–233. doi: 10.1016/j.neulet.2005.12.050. PubMed DOI

Larsen J, Carvill GL, Gardella E, et al. The phenotypic spectrum of SCN8A encephalopathy. Neurology. 2015;84:480–489. doi: 10.1212/WNL.0000000000001211. PubMed DOI PMC

Gilfillan GD, Selmer KK, Roxrud I, et al. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet. 2008;82:1003–1010. doi: 10.1016/j.ajhg.2008.01.013. PubMed DOI PMC

Damaj L, Lupien-Meilleur A, Lortie A, et al. CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. Eur J Hum Genet. 2015;23:1505–1512. doi: 10.1038/ejhg.2015.21. PubMed DOI PMC

Freeze H, Eklund EA, Ng B, Patterson MC. Neurology of inherited glycosylation disorders. Lancet Neurol. 2012;11:453–466. doi: 10.1016/S1474-4422(12)70040-6. PubMed DOI PMC

Nachbauer W, Eigentler A, Boesch S. Acquired ataxias: the clinical spectrum, diagnosis and management. J Neurol. 2015;262:1385–1393. doi: 10.1007/s00415-015-7685-8. PubMed DOI

Tsao CY. Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia, and hallucinations in an adolescent male. Semin Pediatr Neurol. 2014;21:106–108. doi: 10.1016/j.spen.2014.04.012. PubMed DOI

Harirchian MH, Shandiz EE, Turnbull J, Minassian BA, Shahsiah R. Lafora disease: a case report, pathologic and genetic study. Indian J Pathol Microbiol. 2011;54:374–375. doi: 10.4103/0377-4929.81645. PubMed DOI

Delgado-Escueta AV. Advances in lafora progressive myoclonus epilepsy. Curr Neurol Neurosci Rep. 2007;7((5)):428–433. doi: 10.1007/s11910-007-0066-7. PubMed DOI

Mole SE, Cotman SL. Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochimica et Biophysica Acta (BBA) Mol Basis Dis. 2015;1852((10, Part B)):2237–2241. doi: 10.1016/j.bbadis.2015.05.011. PubMed DOI PMC

Vieira de Rezende Pinto WB, Sgobbi de Souza PV, Pedroso JL, Barsottini OG. Variable phenotype and severity of sialidosis expressed in two siblings presenting with ataxia and macular cherry-red spots. J Clin Neurosci. 2013;20:1327–1328. doi: 10.1016/j.jocn.2012.12.014. PubMed DOI

Grabowski GA, Zimran A, Ida H. Gaucher disease types 1 and 3: phenotypic characterization of large populations from the ICGG Gaucher Registry. Am J Hematol. 2015;90(Suppl 1):S12–S18. doi: 10.1002/ajh.24063. PubMed DOI

DiMauro S, Hirano M. MERRF. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews(®) [Internet] Seattle, WA: University of Washington; 1993. [cited 2015 Nov 23] Available from: http://www.ncbi.nlm.nih.gov/books/NBK1520/

Lehesjoki AE, Gardiner M. Progressive myoclonus epilepsy: Unverricht-Lundborg disease and neuronal ceroid lipofuscinoses. In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper’s basic mechanisms of the epilepsies [Internet] 4th ed. Bethesda, MD: National Center for Biotechnology Information (US); 2012. [cited 2015 Aug 23] Available from: http://www.ncbi.nlm.nih.gov/books/NBK98154/. doi: 10.1093/med/9780199746545.001.0001. PubMed DOI

Amrom D, Andermann F, Andermann E. GeneReviews. Seattle, WA: University of Washington; 1993. Action myoclonus – renal failure syndrome. [Internet] [cited 2016 Mar 30, 1993. Available from: http://www.ncbi.nlm.nih.gov/books/NBK333437/ PubMed

Vaamonde J, Muruzabal J, Tuñón T, et al. Abnormal muscle and skin mitochondria in family with myoclonus, ataxia, and deafness (May and White syndrome) J Neurol Neurosurg Psychiatry. 1992;55:128–132. doi: 10.1136/jnnp.55.2.128. PubMed DOI PMC

Mocellin R, Walterfang M, Velakoulis D. Hashimoto’s encephalopathy: epidemiology, pathogenesis and management. CNS Drugs. 2007;21:799–811. doi: 10.2165/00023210-200721100-00002. PubMed DOI

Whaley NR, Fujioka S, Wszolek ZK. Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis. 2011;6:33. doi: 10.1186/1750-1172-6-33. PubMed DOI PMC

Serratosa JM, Minassian BA, Ganesh S. Gene defects in progressive myoclonus epilepsy. Epilepsia. 2010;51:75. doi: 10.1111/j.1528-1167.2010.02861.x. DOI

Rossi M, Perez-Lloret S, Doldan L, et al. Autosomal dominant cerebellar ataxias: a systematic review of clinical features. Eur J Neurol. 2014;21:607–615. doi: 10.1111/ene.12350. PubMed DOI

Tan NCK, Zhou Y, Tan ASC, Chong SS, Lee WL. Spinocerebellar ataxia type 2 with focal epilepsy – an unusual association. Ann Acad Med Singap. 2004;33:103–106. PubMed

Choubtum L, Witoonpanich P, Hanchaiphiboolkul S, et al. Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study. BMC Neurol. 2015;15:166. doi: 10.1186/s12883-015-0425-y. PubMed DOI PMC

Manto M-U. The wide spectrum of spinocerebellar ataxias (SCAs) Cerebellum. 2005;4:2–6. doi: 10.1080/14734220510007914. PubMed DOI

Pulst SM. Spinocerebellar ataxia type 13. GeneReviews(®) [Internet] 1993 [cited 2016 Mar 30] Available from: http://www.ncbi.nlm.nih.gov/books/NBK1225/

Park H, Kim H-J, Jeon BS. Parkinsonism in Spinocerebellar ataxia. BioMed Res Int. 2015;2015:1–11. doi: 10.1155/2015/125273. PubMed DOI PMC

Friedreich ataxia [Internet] Genetics Home Reference. 2016 [cited 2016 Mar 30] doi: https://ghr.nlm.nih.gov/condition/friedreich-ataxia.

Gatti R. Ataxia-telangiectasia. GeneReviews. 1993 [Internet] [cited 2016 Mar 30] Available from: http://www.ncbi.nlm.nih.gov/books/NBK26468/

Najít záznam

Citační ukazatele

Nahrávání dat ...

Možnosti archivace

Nahrávání dat ...