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Neurogenetics

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05.06.2020 | Short Communication

Is NIPA1-associated hereditary spastic paraplegia always ‘pure’? Further evidence of motor neurone disease and epilepsy as rare manifestations

verfasst von: Matthew Tanti, Diane Cairns, Nasir Mirza, Emma McCann, Carolyn Young

Erschienen in: Neurogenetics | Ausgabe 4/2020

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Abstract

Pathogenic variants in the nonimprinted in Prader-Willi/Angelman syndrome (NIPA1) gene typically present with pure hereditary spastic paraplegia (HSP) but complex cases are described. We present a patient with childhood idiopathic generalised epilepsy (IGE) who later developed HSP. She rapidly deteriorated 27 years later with clinically definite amyotrophic lateral sclerosis (ALS). Her family history included HSP, IGE and motor neurone disease. Genetic testing identified a pathogenic variant in the NIPA1 gene associated with spastic paraplegia 6 (SPG6). This case provides the first description of NIPA1 in a family with epilepsy, ALS and thus complex HSP.

de Souza PV, de Rezende Pinto WB, de Rezende Batistella GN et al (2016) Hereditary spastic Paraplegia: Clinical and Genetic Hallmarks. Cerebellum 16:525–551. https://doi.org/10.1007/s12311-016-0803-zCrossRef

Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A (2014) Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol 261:518–539. https://doi.org/10.1016/j.expneurol.2014.06.011CrossRefPubMed

Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN (2019) Expansion of the human phenotype ontology (HPO) knowledge base and resources. Nucleic Acids Res 47:D1018–D1027. https://doi.org/10.1093/nar/gky1105CrossRefPubMed

Reed JA, Wilkinson PA, Patel H, Simpson MA, Chatonnet A, Robay D, Patton MA, Crosby AH, Warner TT (2005) A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics 6:79–84. https://doi.org/10.1007/s10048-004-0209-9CrossRefPubMed

Svenstrup K, Møller RS, Christensen J, Budtz-Jørgensen E, Gilling M, Nielsen JE (2011) NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. Eur J Neurol 18:1197–1199. https://doi.org/10.1111/j.1468-1331.2011.03359.xCrossRefPubMed

Martinez-Lage M, Molina-Porcel L, Falcone D, McCluskey L, Lee VMY, van Deerlin VM, Trojanowski JQ (2012) TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation. Acta Neuropathol 124:285–291. https://doi.org/10.1007/s00401-012-0947-yCrossRefPubMedPubMedCentral

de Carvalho M, Dengler R, Eisen A, England JD, Kaji R, Kimura J, Mills K, Mitsumoto H, Nodera H, Shefner J, Swash M (2008) Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol 119:497–503. https://doi.org/10.1016/j.clinph.2007.09.143CrossRefPubMed

Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G (2012) Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci 318:1–18. https://doi.org/10.1016/j.jns.2012.03.025CrossRefPubMed

Ruano L, Melo C, Silva MC, Coutinho P (2014) The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 42:174–183. https://doi.org/10.1159/000358801CrossRefPubMed

10.

Klebe S, Stevanin G, Depienne C (2015) Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Rev Neurol (Paris) 171:505–530. https://doi.org/10.1016/j.neurol.2015.02.017CrossRef

11.

Zhao J, Matthies DS, Botzolakis EJ, Macdonald RL, Blakely RD, Hedera P (2008) Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism. J Neurosci 28:13938–13951. https://doi.org/10.1523/JNEUROSCI.4668-08.2008CrossRefPubMedPubMedCentral

12.

Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, Hussain M, Phillips AD, Cooper DN (2017) The human gene mutation database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet 136:665–677. https://doi.org/10.1007/s00439-017-1779-6CrossRefPubMedPubMedCentral

13.

Du J, Hu YC, Tang BS et al (2011) Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1. Clin Neurol Neurosurg 113:480–482. https://doi.org/10.1016/j.clineuro.2011.02.011CrossRefPubMed

14.

Parodi L, Fenu S, Stevanin G, Durr A (2017) Hereditary spastic paraplegia: more than an upper motor neuron disease. Rev Neurol (Paris) 173:352–360. https://doi.org/10.1016/j.neurol.2017.03.034CrossRef

15.

Wharton SB, McDermott CJ, Grierson AJ et al (2003) The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene. J Neuropathol Exp Neurol 62:1166–1177. https://doi.org/10.1093/jnen/62.11.1166CrossRefPubMed

16.

Tazelaar GHP, Dekker AM, van Vugt JJFA et al (2019) Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort. Neurobiol Aging 74:234.e9–234.e15. https://doi.org/10.1016/j.neurobiolaging.2018.09.012CrossRef

Titel: Is NIPA1-associated hereditary spastic paraplegia always ‘pure’? Further evidence of motor neurone disease and epilepsy as rare manifestations
verfasst von: Matthew Tanti
Diane Cairns
Nasir Mirza
Emma McCann
Carolyn Young
Publikationsdatum: 05.06.2020
Verlag: Springer Berlin Heidelberg
Erschienen in: Neurogenetics / Ausgabe 4/2020
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-020-00619-0

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