Abstract
Hereditary spastic paraplegias are a rare group of clinically and genetically heterogeneous neurodegenerative diseases, with upper motor neuron degeneration and progressive lower limb spasticity as their main phenotypic features. Despite that 76 distinct loci have been reported and some casual genes identified, most of the underlying causes still remain unidentified. Moreover, a wide range of clinical manifestations is present in most hereditary spastic paraplegias subtypes, adding further complexity to their differential clinical diagnoses. Here, we describe the first exon rearrangement reported in the SPG45/SPG65 (NT5C2) loci in a family featuring a complex hereditary spastic paraplegias phenotype. This study expands both the phenotypic and mutational spectra of the NT5C2-associated disease.
Highlights
Hereditary spastic paraplegias (HSPs) are a rare group of genetically heterogeneous neurodegenerative disorders, characterized by a progressive lower limb spasticity and weakness that results from a loss of corticospinal motor tract function.[1]
We report the identification of a novel mutation in the NT5C2 gene (MIM# 613162), known as SPG45/SPG65, in a family presenting with a complex form of autosomal recessive (AR)-HSP
We describe the identification of a novel NT5C2 mutation in a family with complex AR-HSP
Summary
Hereditary spastic paraplegias (HSPs) are a rare group of genetically heterogeneous neurodegenerative disorders, characterized by a progressive lower limb spasticity and weakness that results from a loss of corticospinal motor tract function.[1] Over 70 different HSP loci have already been reported, with several patterns of inheritance, including autosomal recessive (AR), autosomal dominant, and X-linked, being identified. Based on their accompanying clinical symptoms, HSPs are classified in two distinct categories: pure and complex. An additional family carrying a novel homozygous splice-site mutation has recently been reported.[5]
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