Early onset cerebellar ataxia – autosomal recessive forms (Part I)
Keywords:
autosomal recessive cerebellar ataxia, early cerebellar ataxia, ataxia-telangiectasiaAbstract
Autosomal recessive (AR) cerebellar ataxias are a heterogeneous group of rare neurological diseases affecting both the central and peri pheral nervous systems. Typical for them is the early onset of clini cal symptoms (before 20 years of age). The main clinical mani festation is cerebellar ataxia, in some of the cases combined with involvement of the retina, optic nerves, cerebrum, basal ganglia, brainstem, spinal cord and peripheral nerves. Based on clinical and genetic criteria, four main types of AR ataxias are distinguished – congenital, ataxia, associated with metabolic disorders, degenerative ataxias and ataxias with DNA repair defect.
The diagnosis is based on the clinical course, the imaging findings, the results of electrophysiological tests and is confirmed by genetic testing. Although there is no definitive and specific treatment for most AR cerebellar ataxias, early diagnosis is essential given the possibility of prenatal diagnosis and specific drug treatment for ataxia due to coenzyme Q deficiency, vitamin E deficiency and abetalipoproteinemia.
References
Bozhinova, V. Nevrolipidozi i levkodistrofii. V: Nevrologiia, P.r. Milanov, I. Steno, Varna, 2021, 1015-1032.
Bozhinova, V., Todorov, T., Todorova, A., Milanov, I., Ivanov, I. Za diferencialnata diagnoza na levkodistrofiite s ranno nachalo s predstaviane na klinichni sluchai. Pediatriia, 2019, 59, 2, 51-58.
Bozhinova, V., Milanov, I., Todorova, A., Todorov, T., Topalov, N. Levkodistrofii i levkoencefalopatii – aktualna klasifikaciia, diagnosticirane i lechenie. Bylgarska nevrologiia, 2020, 21, 2, 44-51.
Bozhinova, V. Cerebelarni degenerativni zaboliavaniia. V: Nevrologiia, P.R. Milanov, I. Steno, Varna, 2021, 1032-1052.
Dimova, P., Bozhinova, V. Nevronalna ceroidlipofuscinoza: pyrvite dva sluchaia v Bylgariia s potvyrdena diagnoza. Pediatriia 2006, 46, 3, 27-31.
Dimova, P., Bozhinova, V., Lukach, Z. Nevronalni ceroidlipofuscinozi v detska vyzrast: ne tolkova redki, no trudno razpoznavani v Bylgariia. Bylgarska nevrologiia, 2007, 7, 5, 225-230.
Koleva, M., Bozhinova, V., Ivanova, N., Mihova, K., Kyneva, R., Tyrnev, I. Genetichno verificiran sluchaj na nevronalna ceroidlipofuscinoza s nova mutaciia v CLN 6 gena. Bylgarska nevrologiia, 2019, 20, 1, 25-29.
Koleva, M., Bozhinova, V. Savov, A. Sluchaj na Ataksiia-telangiektaziia u 5-godishno momiche s ne-Hodzhkinov limfom. Pediatriia, 2017, 57, 1, 54-57.
Koleva, M., Bozhinova, V., Todorov, T., Todorova, A., Milanov, I. Bolest na Pelizeaus Merzbacher – klinichno i genetichno verificiran sluchaj. Bylgarska nevrologiia, 2019, 20, 1, 25-29.
Amirifar, P., Ranjouri, M., Yazdani, R., Abolhassani, H., Aghamohammadi, A. Ataxia-telangiectasia: A review of clinical features and molecular pathology. Pediatr Allergy Immunol, 2019, 30, 3, 277-288.
Beaudin, M., Dupré, N. Autosomal Recessive Ataxias. In: Essentials of Cerebellum and Cerebellar Disorders. Eds. Gruol, D., Koibuchi, N., Manto, M., Molinari, M., Schmahmann, J., Shen, Y. Switzerland, Springer, 2016, р. 545-552.
Boenzi, S., Dardis, A., Russo, P. et al. Screening for Niemann-Pick type C disease in neurodegenerative diseases. J Clin Neurosci, 2019, 68, 266-267.
Burlina, A. Niemann-Pick disease type C: introduction and main clinical features. J Neurol, 2014, 261, Suppl 2, 525-527.
Choudry, T., Hilton-Jones, D., Lennox, G., Houlden, H. Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. Practical Neurology, 2017, 1-5.
Cotta, A., Alston, C., Baptista-Junior, S. et al. Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion. JIMD Rep, 2020, 54, 1, 45-53
Demuth, I., Dutrannoy, V., Marques, W. New mutations in the ATM gene and Clinical data of 25 AT-Patients. Neurogenetics, 2011, 12, 4, 273-282.
Donzuso, G., Mostile, G., Nicoletti, A., Zappia, M. Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features. Neurol Sci, 2019, 40, 11, 2251-2263.
Finsterer, J. Linked Ataxias. In: Essentials of Cerebellum and Cerebellar Disorders. Eds. Gruol, D., Koibuchi, N., Manto, M., Molinari, M., Schmahmann, J., Shen, Y. Switzerland, Springer, 2016, р. 553-560.
Galosi, S., Barca, E., Carrozzo, R. et al. Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review. Parkinsonism Relat Disord, 2019, 68, 8-16.
Geberhiwot, T., Moro, A., Dardis, A. et al. International Niemann-Pick Disease Registry (INPDR). Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis, 2018, 13, 1, 50.
Karikkineth, A., Scheibye-Knudsen, M., Fivenson, E. et al. Cockayne syndrome: Clinical features, model systems and pathways. Ageing Res Rev, 2017, 33, 3-17.
Levy,. A, Lang, A. Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. Mov Disord, 2018, 33, 8, 1238-1247.
Menkes, J. Heredodegenerative diseases. In: Child Neurology 7th ed., Eds Menkes, J., Sarnat, H., Maria, B. Lippincott Williams & Wilkins, 2006, p. 163-226.
Palau, F., Arpa, J. Differential Diagnosis of Cerebellar Ataxias on the Basis of the Age at Onset In: Essentials of Cerebellum and Cerebellar Disorders. Eds. Gruol, D., Koibuchi, N., Manto, M., Molinari, M., Schmahmann, J., Shen, Y. Switzerland, Springer, 2016, р.523-230.
Pedroso, J., Vale, T., da Costa, S., Santos, M., Alonso, I., Barsottini, O. Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome. Tremor Other Hyperkinet Mov, 2020, 10, 39, 1-3.
Poretti, A., Boltshauser, E. Overview of Ataxias in Children. In: Essentials of Cerebellum and Cerebellar Disorders. Eds. Gruol, D., Koibuchi, N., Manto, M., Molinari, M., Schmahmann, J., Shen, Y. Switzerland, Springer, 2016, р. 531-538.
Rothblum-Oviatt, C., Wright, J., Lefton-Greif, M., McGrath-Morrow, S., Crawford, T., Lederman, H. Ataxia telangiectasia: a review. Orphanet J Rare Dis, 2016, 11, 1, 159.
Sumida, K., Inoue, K., Takanashi, J. et al. The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients. Brain Dev, 2016, 38, 6, 571-580.
Traschütz, A., Schirinzi, T., Laugwitz, L. et al. Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. Ann Neurol, 2020, 88, 2, 251-263.
van Os, N., van Deuren, M., Weemaes, C. et al. Classic ataxiatelangiectasia: the phenotype of long-term survivors. J Neurol, 2020, 267, 3, 830-837.
Downloads
Published
How to Cite
Issue
Section
ARK
License
Copyright (c) 2021 Bulgarian Neurology
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.
