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[Genetic testing in hereditary spastic paraplegia].

Orvosi hetilap - 18 Jan 2015

Hadzsiev Kinga, Balikó László, Komlósi Katalin, Lőcsei-Fekete Anett, Csábi Györgyi, Bene Judit, Kisfali Péter, Melegh Béla

Abstract excerpt

INTRODUCTION: Hereditary spastic paraplegia is the overall term for clinically and genetically diverse disorders characterized with progressive and variable severe lower extremity spasticity. The most common causes of autosomal dominantly inherited hereditary spastic paraplegias are different mutations of the spastin gene with variable incidence in different ethnic groups, ranging between 15-40%. Mutations in the...

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Adolescent
Child
Child, Preschool
Disease Progression
Locomotion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single Nucleotide

Spastic Paraplegia, Hereditary

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PMID: 25577683
DOI: 10.1556/OH.2015.30014

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