Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of genetic disorders with spastic paraparesis as the main clinical feature. Complex forms may co-occur with other motor, sensory, and cognitive impairment. A growing number of loci and genes are being identified, but still more than 50%...

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Main Authors: Sergio Aguilera-Albesa, Ana Belén de la Hoz, Nekane Ibarluzea, Andrés R. Ordóñez-Castillo, Olivia Busto-Crespo, Olatz Villate, María Asunción Ibiricu-Yanguas, María E. Yoldi-Petri, Iñaki García de Gurtubay, Guiomar Perez de Nanclares, Arrate Pereda, María Isabel Tejada
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Neurology
Subjects:
intellectual disability
hereditary spastic paraplegia
SPG 31
copy number variants
dual genetic etiology
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2020.00041/full

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https://www.frontiersin.org/article/10.3389/fneur.2020.00041/full

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