CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation

References

• Trummer B, Haubenberger D, Blackstone C. Clinical trial designs and measures in hereditary spastic paraplegias. Front Neurol. 2018;9:1017.
   PubMed Web of Science ®Google Scholar
• Harding A. Classification of the hereditary ataxias and paraplegias. Lancet. 1983;321(8334):1151–1155.
   Google Scholar
• Ruano L, Melo C, Silva MC, et al. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014;42(3):174–183.
   PubMed Web of Science ®Google Scholar
• Fink JK. Advances in the hereditary spastic paraplegias. Exp Neurol. 2003;184:106–110.
   PubMed Web of Science ®Google Scholar
• Cotti Piccinelli S, Bassi MT, Citterio A, et al. A novel CAPN1 mutation causes a pure hereditary spastic paraplegia in an Italian family. Front Neurol. 2019;10:580.
   PubMed Web of Science ®Google Scholar
• Giudice TL, Lombardi F, Santorelli FM, et al. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol. 2014;261:518–539.
   PubMed Web of Science ®Google Scholar
• Boutry M, Morais S, Stevanin G. Update on the genetics of spastic paraplegias. Curr Neurol Neurosci Rep. 2019;19(4):18.
   PubMed Web of Science ®Google Scholar
• Tesson C, Koht J, Stevanin G. Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. Hum Genet. 2015;134(6):511–538.
   PubMed Web of Science ®Google Scholar
• Klebe S, Stevanin G, Depienne C. Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Revue Neurol. 2015;171(6-7):505–530.
   PubMed Web of Science ®Google Scholar
• Kumar KR, Blair NF, Sue CM. An update on the hereditary spastic paraplegias: new genes and new disease models. Mov Disord Clin Pract. 2015;2(3):213–223.
   PubMed Web of Science ®Google Scholar
• Fink JK. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol. 2013;126(3):307–328.
   PubMed Web of Science ®Google Scholar
• Blackstone C. Chapter 41 - Hereditary spastic paraplegia. Handb Clin Neurol. 2018;148:633–652.
   PubMedGoogle Scholar
• Daoud H, Zhou S, Noreau A, et al. Exome sequencing reveals SPG11 mutations causing juvenile ALS. Neurobiol Aging. 2012;33(4):839. e5–839. e9.
   Web of Science ®Google Scholar
• Synofzik M, Schule R. Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways. Mov Disord. 2017;32(3):332–345.
   PubMed Web of Science ®Google Scholar
• Pfeffer G, Pyle A, Griffin H, et al. SPG7 mutations are a common cause of undiagnosed ataxia. Neurology. 2015;84(11):1174–1176.
   PubMed Web of Science ®Google Scholar
• Bilguvar K, Tyagi NK, Ozkara C, et al. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci USA. 2013;110(9):3489–3494.
   PubMed Web of Science ®Google Scholar
• Landouré G, Zhu PP, Lourenço CM, et al. Hereditary spastic paraplegia type 43 (SPG 43) is caused by mutation in C19orf12. Hum Mutat. 2013;34(10):1357–1360.
   PubMed Web of Science ®Google Scholar
• Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics. 2005;6(1):1–16.
   PubMed Web of Science ®Google Scholar
• Goizet C, Depienne C, Benard G, et al. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat. 2011;32(10):1118–1127.
   PubMed Web of Science ®Google Scholar
• Dor T, Cinnamon Y, Raymond L, et al. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J Med Genet. 2014;51(2):137–142.
   PubMed Web of Science ®Google Scholar
• Estrada-Cuzcano A, Martin S, Chamova T, et al. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain. 2017;140(2):287–305.
   PubMed Web of Science ®Google Scholar
• Wiethoff S, Bettencourt C, Paudel R, et al. Pure cerebellar ataxia with homozygous mutations in the PNPLA6 gene. Cerebellum. 2017;16(1):262–267.
   PubMed Web of Science ®Google Scholar
• Gan-Or Z, Bouslam N, Birouk N, et al. Mutations in CAPN1 cause autosomal-recessive hereditary spastic paraplegia. Am J Hum Genet. 2016;98(5):1038–1046.
   PubMed Web of Science ®Google Scholar
• Melo US, Freua F, Lynch DS, et al. Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations. Clin Genet. 2018;94(5):482–483.
   PubMed Web of Science ®Google Scholar
• Peng F, Sun YM, Quan C, et al. Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review. Orphanet J Rare Dis. 2019;14(1):83.
   PubMedGoogle Scholar
• Chen Y, Cen Z, Zheng X, et al. A Novel Homozygous CAPN1 pathogenic variant in a Chinese patient with pure hereditary spastic paraplegia. J Clin Neurol. 2019;15(2):271–272.
   PubMed Web of Science ®Google Scholar
• Wang Y, Hersheson J, Lopez D, et al. Defects in the CAPN1 gene result in alterations in cerebellar development and cerebellar ataxia in mice and humans. Cell Rep. 2016;16(1):79–91.
   PubMed Web of Science ®Google Scholar
• Travaglini L, Bellacchio E, Aiello C, et al. Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia. J Neurol Sci. 2017;378:210–212.
   PubMed Web of Science ®Google Scholar
• Kocoglu C, Gundogdu A, Kocaman G, et al. Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families. Neurol Genet. 2018;4(1):e218.
   PubMed Web of Science ®Google Scholar
• Shetty A, Gan-Or Z, Ashtiani S, et al. CAPN1 mutations: expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia. Eur J Med Genet . 2019;62(12):103605.
   PubMed Web of Science ®Google Scholar
• Tadic V, Klein C, Hinrichs F, et al. CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia. J Neurol. 2017;264(5):1008–1010.
   PubMed Web of Science ®Google Scholar
• Lambe J, Monaghan B, Munteanu T, et al. CAPN1 mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype. Pract Neurol. 2018;18(5):369–372.
   PubMedGoogle Scholar
• Garcia-Berlanga JE, Moscovich M, Palacios IJ, et al. CAPN1 Variants as cause of hereditary spastic paraplegia type 76. Case Rep Neurol Med. 2019;2019:1–5.
   Web of Science ®Google Scholar
• Kircher M, Witten DM, Jain P, et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46(3):310–315..
   PubMed Web of Science ®Google Scholar
• Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424.
   PubMed Web of Science ®Google Scholar
• Goll DE, Thompson VF, Li H, et al. The calpain system. Physiol Rev. 2003;83(3):731–801.
   PubMed Web of Science ®Google Scholar
• Ono Y, Sorimachi H. Calpains: an elaborate proteolytic system. Biochim Biophys Acta. 2012;1824(1):224–236.
   PubMed Web of Science ®Google Scholar
• Baudry M, Bi X. Calpain-1 and calpain-2: The Yin and Yang of synaptic plasticity and neurodegeneration. Trends Neurosci. 2016;39(4):235–245.
   PubMed Web of Science ®Google Scholar
• Forman OP, De Risio L, Mellersh CS. Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed. PLoS One. 2013;8(5):e64627.
   PubMed Web of Science ®Google Scholar