Top

Journal of Neurology

Published in:

01-09-2017 | Letter to the Editors

Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21

Authors: Marina Scarlato, Andrea Citterio, Alessandra Barbieri, Claudia Godi, Elena Panzeri, Maria Teresa Bassi

Published in: Journal of Neurology | Issue 9/2017

Excerpt

Dear Sirs, …

Available only for authorised users

Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH (2003) Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet 73:1147–1156CrossRefPubMedPubMedCentral

Ishiura H, Takahashi Y, Hayashi T, Saito K, Furuya H, Watanabe M, Murata M, Suzuki M, Sugiura A, Sawai S, Shibuya K, Ueda N, Ichikawa Y, Kanazawa I, Goto J, Tsuji S (2014) Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. J Hum Genet 59:163–172. doi:10.1038/jhg.2013.139 CrossRefPubMed

Zeitlmann L, Sirim P, Kremmer E, Kolanus W (2001) Cloning of ACP33 as a novel intracellular ligand of CD4. J Biol Chem 276:9123–9132 (PubMed PMID: 11113139) CrossRefPubMed

Hanna MC, Blackstone C (2009) Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. Neurogenetics 10(3):217–228. doi:10.1007/s10048-009-0172-6 (PubMed PMID: 19184135) CrossRefPubMed

Soderblom C, Stadler J, Jupille H, Blackstone C, Shupliakov O, Hanna MC (2010) Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons. Neurogenetics 11:369–378. doi:10.1007/s10048-010-0252-7 CrossRefPubMed

Davenport A, Bivona A, Latson W, Lemanski LF, Cheriyath V (2016) Loss of maspardin attenuates the growth and maturation of mouse cortical neurons. Neurodegener Dis 16:260–272. doi:10.1159/000443666 CrossRefPubMed

Panza E, Escamilla-Honrubia JM, Marco-Marín C, Gougeard N, De Michele G, Morra VB, Liguori R, Salviati L, Donati MA, Cusano R, Pippucci T, Ravazzolo R, Németh AH, Smithson S, Davies S, Hurst JA, Bordo D, Rubio V, Seri M (2016) ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. Brain 139(Pt 1):e3. doi:10.1093/brain/awv247 CrossRefPubMed

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G (2015) Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain 138(Pt 8):2191–2205. doi:10.1093/brain/awv143 CrossRefPubMedPubMedCentral

Agosta F, Scarlato M, Spinelli EG, Canu E, Benedetti S, Bassi MT, Casali C, Sessa M, Copetti M, Pagani E, Comi G, Ferrari M, Falini A, Filippi M (2015) Hereditary spastic paraplegia: beyond clinical phenotypes toward a unified pattern of central nervous system damage. Radiology 276:207–218. doi:10.1148/radiol.14141715 CrossRefPubMed

Title: Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21
Authors: Marina Scarlato
Andrea Citterio
Alessandra Barbieri
Claudia Godi
Elena Panzeri
Maria Teresa Bassi
Publication date: 01-09-2017
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 9/2017
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-017-8558-0

At a glance: The STEP trials

Springer Medicine

Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 9/2017

Retinal ganglion cell analysis in multiple sclerosis and optic neuritis: a systematic review and meta-analysis

Erratum to: Efficacy of rasagiline and selegiline in Parkinson’s disease: a head-to-head 3-year retrospective case–control study

The impact of anger in adherence to treatment and beliefs about disease 1 year after stroke

A novel imaging technique for better detecting new lesions in multiple sclerosis

Severity of traumatic brain injury correlates with long-term cardiovascular autonomic dysfunction

Regional microstructural damage and patterns of eye movement impairment: a DTI and video-oculography study in neurodegenerative parkinsonian syndromes