Ashizawa T, Xia G (2016) Continuum: lifelong learning in neurology. Ataxia 22:1208

Google Scholar 

Boycott KM, Hartley T, Biesecker LG, Gibbs RA, Innes AM, Riess O, Belmont J, Dunwoodie SL, Jojic N, Lassmann T, Mackay D, Temple IK, Visel A, Baynam G (2019) A diagnosis for all rare genetic diseases: the horizon and the next frontiers. Cell 177:32–37. https://doi.org/10.1016/J.CELL.2019.02.040

Article  CAS  Google Scholar 

Kumar A, Turner E, Shendure J (2010) Targeted capture and massively parallel sequencing of the human exome, in: Journal of Investigative Medicine. BMJ Publishing Group British Med Assoc House, Tavistock Square, London WC1H …, p 123

Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Chardon JW, Yoon G, Rouleau GA, Suchowersky O, Siu V (2014) Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat 35:45–49

Article  Google Scholar 

Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE (2020) A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat 41:487–501

Article  CAS  Google Scholar 

Bogdanova-Mihaylova P, Hebert J, Moran S, Murphy M, Ward D, Walsh RA, Murphy SM (2021) Inherited cerebellar ataxias: 5-year experience of the Irish National Ataxia Clinic. Cerebellum 20:54–61. https://doi.org/10.1007/s12311-020-01180-0

Article  CAS  Google Scholar 

Millan F, McKnight D, Scuffins J, Juusola J, Richard G, Lindy A (2017) Exome sequencing offers a comprehensive genetic evaluation and high diagnostic rate for ataxia-related disorders (S17.004). Neurology 88:S17.004. http://n.neurology.org/content/88/16_Supplement/S17.004.abstract

Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CME (2009) Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain 132:1577–1588. https://doi.org/10.1093/brain/awp056

Article  Google Scholar 

Coutinho P, Ruano L, Loureiro JL, Cruz VT, Barros J, Tuna A, Barbot C, Guimarães J, Alonso I, Silveira I, Sequeiros J, Marques Neves J, Serrano P, Silva MC (2013) Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. JAMA Neurol 70:746–755. https://doi.org/10.1001/jamaneurol.2013.1707

Article  Google Scholar 

Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Caputi C, Cioffi E, De Michele G, Dotti MT, Fico T, Fiorillo C, Galosi S, Lieto M, Malandrini A, Melone MAB, Mignarri A, Natale G, Pegoraro E, Petrucci A, Ricca I, Riso V, Rossi S, Rubegni A, Scarlatti A, Tinelli F, Trovato R, Tedeschi G, Tessa A, Filla A, Santorelli FM (2021) NGS in hereditary ataxia: when rare becomes frequent. Int J Mol Sci 22:8490. https://doi.org/10.3390/ijms22168490

Article  CAS  PubMed Central  Google Scholar 

Coutelier M, Hammer MB, Stevanin G, Monin M-L, Davoine C-S, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A, for the S.P. and A. Network (2018) Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes. JAMA Neurol 75:591–599. https://doi.org/10.1001/jamaneurol.2017.5121

Kuo S-H (2019) Continuum (Minneap Minn). Ataxia 25:1036

Google Scholar 

Mariotti C, Fancellu R, Di Donato S (2005) An overview of the patient with ataxia. J Neurol 252:511–518

Article  CAS  Google Scholar 

Josephs KA, Van Gerpen MW, Van Gerpen JA (2003) Adult onset Niemann-Pick disease type C presenting with psychosis. J Neurol Neurosurg Psychiatry 74:528–529. https://doi.org/10.1136/jnnp.74.4.528

Article  CAS  PubMed Central  Google Scholar 

Kallionpää RA, Valtanen M, Auranen K, Uusitalo E, Rinne JO, Peltonen S, Peltonen J (2021) Increased risk for dementia in neurofibromatosis type 1. Genet Med 23:2219–2222. https://doi.org/10.1038/s41436-021-01261-3

Article  PubMed Central  Google Scholar 

Skott H, Muntean-Firanescu C, Samuelsson K, Verrecchia L, Svenningsson P, Malmgren H, Cananau C, Espay AJ, Press R, Solders G, Paucar M (2019) The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C. Cerebellum Ataxias 6:9. https://doi.org/10.1186/s40673-019-0103-8

Article  PubMed Central  Google Scholar 

Akbar U, Ashizawa T (2015) Ataxia. Neurol Clin 33:225–248. https://doi.org/10.1016/j.ncl.2014.09.004

Article  PubMed Central  Google Scholar 

Chiang P-I, Liao T-W, Chen C-M (2022) A novel SETX mutation in a Taiwanese patient with autosomal recessive cerebellar ataxia detected by targeted next-generation sequencing, and a literature review. Brain Sci 12:173. https://doi.org/10.3390/brainsci12020173

Article  CAS  PubMed Central  Google Scholar 

Gwathmey KG, Pearson KT (2019) Diagnosis and management of sensory polyneuropathy. BMJ l1108. https://doi.org/10.1136/bmj.l1108

Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, AbouJamra R (2017) Clinical exome sequencing: results from 2819 samples reflecting 1000 families. European J Hum Genet 25:176–182. https://doi.org/10.1038/ejhg.2016.146

Article  CAS  Google Scholar 

Breza M, Bourinaris T, Efthymiou S, Maroofian R, Athanasiou-Fragkouli A, Tzartos J, Velonakis G, Karavasilis E, Angelopoulou G, Kasselimis D, Potagas C, Stefanis L, Karadima G, Koutsis G, Houlden H (2020) A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia. Brain 143:e49–e49. https://doi.org/10.1093/brain/awaa120

Article  PubMed Central  Google Scholar 

Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayflick SJ (2008) Neurodegeneration associated with genetic defects in phospholipase A2. Neurology 71:1402–1409. https://doi.org/10.1212/01.wnl.0000327094.67726.28

Article  CAS  PubMed Central  Google Scholar 

Hogarth P (2015) Neurodegeneration with brain iron accumulation: diagnosis and management. J MovDisord 8. https://doi.org/10.14802/jmd.14034/J

Gregory A, Kurian MA, Maher ER, Hogarth P, Hayflick SJ (1993) PLA2G6-associated neurodegeneration. University of Washington, Seattle, Seattle (WA). http://europepmc.org/abstract/MED/20301718

Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, Hubert L, Saada A, de Keyzer Y, Eshel G, Vaz FM, Pines O, Elpeleg O (2008) Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am J Hum Genet 83:489–494. https://doi.org/10.1016/j.ajhg.2008.09.002

Article  CAS  PubMed Central  Google Scholar 

Woldegebriel R, Kvist J, Andersson N, Õunap K, Reinson K, Wojcik MH, Bijlsma EK, Hoffer MJV, Ryan MM, Stark Z, Walsh M, Cuppen I, van den Boogaard M-JH, Bharucha-Goebel D, Donkervoort S, Winchester S, Zori R, Bönnemann CG, Maroofian R, O’Connor E, Houlden H, Zhao F, Carpén O, White M, Sreedharan J, Stewart M, Ylikallio E, Tyynismaa H (2020) Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. Hum Mol Genet 29:1426–1439. https://doi.org/10.1093/hmg/ddaa051

Article  CAS  PubMed Central  Google Scholar 

Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard M-JH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H (2017) MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain 140:2093–2103. https://doi.org/10.1093/brain/awx138

Article  Google Scholar 

Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Schöls L, Schüle R, de Jonghe P, Anheim M, Taroni F, Bauer P (2016) SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain 139:1378–1393. https://doi.org/10.1093/brain/aww079

Article  PubMed Central  Google Scholar 

Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H (2012) Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology 79:127. https://doi.org/10.1212/WNL.0b013e31825f048e

Article  CAS  PubMed Central  Google Scholar 

Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S (2014) KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J Med Genet 51:137–142. https://doi.org/10.1136/jmedgenet-2013-102012

Article  Google Scholar 

Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG (2014) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343:506–511. https://doi.org/10.1126/science.1247363

Article  CAS  PubMed Central  Google Scholar 

Angelini C, Van Gils J, Bigourdan A, Jouk PS, Lacombe D, Menegon P, Moutton S, Riant F, Sole G, Tournier-Lasserve E, Trimouille A, Vincent M, Goizet C (2019) Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant. Eur J Med Genet 62:103530. https://doi.org/10.1016/J.EJMG.2018.08.011

Article  Google Scholar 

Reynolds C, King MD, Gorman KM (2020) The phenotypic spectrum of SCN2A-related epilepsy. European J Paediatr Neurol 24:117–122. https://doi.org/10.1016/j.ejpn.2019.12.016

Article  Google Scholar 

Schwarz N, Hahn A, Bast T, Müller S, Löffler H, Maljevic S, Gaily E, Prehl I, Biskup S, Joensuu T, Lehesjoki AE, Neubauer BA, Lerche H, Hedrich UBS (2016) Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. J Neurol 263:334–343. https://doi.org/10.1007/s00415-015-7984-0

Article  CAS  Google Scholar 

Schwarz N, Bast T, Gaily E, Golla G, Gorman KM, Griffiths LR, Hahn A, Hukin J, King M, Korff C, Miranda MJ, Møller RS, Neubauer B, Smith RA, Smol T, Striano P, Stroud B, Vaccarezza M, Kluger G, Lerche H, Fazeli W (2019) Clinical and genetic spectrum of SCN2A-associated episodic ataxia. European J Paediatr Neurol 23:438–447. https://doi.org/10.1016/j.ejpn.2019.03.001

Article  CAS  Google Scholar 

von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE (1995) Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet 4:279–284. https://doi.org/10.1093/hmg/4.2.279

Article  Google Scholar 

Tilemis F-N, Marinakis NM, Veltra D, Svingou M, Kekou K, Mitrakos A, Tzetis M, Kosma K, Makrythanasis P, Traeger-Synodinos J, Sofocleous C (2023) Germline CNV detection through whole-exome sequencing (WES) data analysis enhances resolution of rare genetic diseases. Genes (Basel) 14:1490. https://doi.org/10.3390/genes14071490

Article  CAS  Google Scholar 

Yao R, Zhang C, Yu T, Li N, Hu X, Wang X, Wang J, Shen Y (2017) Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data. Mol Cytogenet 10:30. https://doi.org/10.1186/s13039-017-0333-5