Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia
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2018-07-25 17:24
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CHELBAN, Viorica, TUCCI, Arianna, LYNCH, David S., POLKE, James M., SANTOS, Liana, JONVIK, Hallgeir, GROPPA, Stanislav, WOOD, Nick, HOULDEN, Henry H.. Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. In: Journal of Neurology, Neurosurgery and Psychiatry, 2017, nr. 8(88), pp. 681-687. ISSN 0022-3050. DOI: https://doi.org/10.1136/jnnp-2017-315796
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Journal of Neurology, Neurosurgery and Psychiatry
Numărul 8(88) / 2017 / ISSN 0022-3050

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

DOI:https://doi.org/10.1136/jnnp-2017-315796

Pag. 681-687

Chelban Viorica12, Tucci Arianna3, Lynch David S.4, Polke James M.4, Santos Liana5, Jonvik Hallgeir5, Groppa Stanislav2, Wood Nick5, Houlden Henry H.1
 
1 Necunoscută, Marea Britanie,
2 Emergency Institute of Medicine,
3 University of Milan,
4 University College London,
5 UCL Queen Square Institute of Neurology
 
 
Disponibil în IBN: 15 februarie 2018


Rezumat

Background: The hereditary spastic paraplegias (HSPs) are a rare and heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive lower limb spasticity. They are classified as either 'pure' or 'complex' where spastic paraplegia is complicated with additional neurological features. Mutations in the spastin gene (SPAST) are the most common cause of HSP and typically present with a pure form. Methods: We assessed in detail the phenotypic and genetic spectrum of SPAST-related HSP focused on 118 patients carrying SPAST mutations. Results: This study, one of the largest cohorts of genetically confirmed spastin patients to date, contributes with the discovery of a significant number of novel SPAST mutations. Our data reveal a high rate of complex cases (25%), with psychiatric disorders among the most common comorbidity (10% of all SPASTpatients). Further, we identify a genotype-phenotype correlation between patients carrying loss-of-function mutations in SPAST and the presence of psychiatric disorders.

Cuvinte-cheie
Adenosine Triphosphatases, adult, Age of Onset, Child Preschool, Codon, Nonsense, DNA Mutational Analysis, Exons, female, Heterozygote Detection, Humans, InfantInfant, newborn, Introns, Male, Mental Disorders, adolescent, alleles, child, genotype