+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients



Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients



Journal of the Neurological Sciences 359(1-2): 35-39



Hereditary spastic paraplegias (HSPs) consist of a heterogeneous group of genetically determined neurodegenerative disorders. Progressive lower extremity weakness and spasticity are the prominent features of HSPs resulting from retrograde axonal degeneration of the corticospinal tracts. Three genetic types, SPG3 (ATL1), SPG4 (SPAST) and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (AD-HSPs). Here, we present the results of genetic testing of the three mentioned SPG genetic types in a group of 216 unrelated Polish patients affected with spastic paraplegia. Molecular evaluation was performed by multiplex ligation-dependent probe amplification (MLPA) and DNA sequencing. Nineteen novel mutations: 13 in SPAST, 4 in ATL1 and 2 in REEP1, were identified among overall 50 different mutations detected in 57 families. Genetic analysis resulted in the identification of molecular defects in 54% of familial and 8.4% of isolated cases. Our research expanded the causative mutations spectrum of the three most common genetic forms of HSPs found in a large cohort of probands originating from the Central Europe.

(PDF emailed within 0-6 h: $19.90)

Accession: 058342423

Download citation: RISBibTeXText

PMID: 26671083

DOI: 10.1016/j.jns.2015.10.030


Related references

Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia. Journal of Clinical Neurology 10(3): 257-261, 2014

Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. Journal of the Neurological Sciences 357(1-2): 167-172, 2016

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. Bmc Neurology 10: 89, 2011

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes. Journal of Neurology 260(3): 869-875, 2013

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). Bmc Medical Genetics 9: 71, 2008

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. Journal of Neurology, Neurosurgery, and Psychiatry 81(10): 1073-1078, 2010

SPAST mutations in Australian patients with hereditary spastic paraplegia. Internal Medicine Journal 42(12): 1342-1347, 2013

Novel human pathological mutations. Gene symbol: SPAST. Disease: Hereditary spastic paraplegia. Human Genetics 127(1): 112, 2010

Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. Journal of Medical Genetics 40(2): 81-86, 2003

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. Journal of Neurology, Neurosurgery, and Psychiatry 88(8): 681-687, 2017

Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks. Neurological Sciences 2019, 2019

Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients. Annals of Human Genetics 81(6): 249-257, 2017

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. American Journal of Human Genetics 79(2): 365-369, 2006

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain 131(Pt 4): 1078-1086, 2008

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. Journal of the Neurological Sciences 306(1-2): 62-65, 2011