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Case Reports in Neurological Medicine
Volume 2019, Article ID 7615605, 5 pages
https://doi.org/10.1155/2019/7615605
Case Report

CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76

1Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, Mexico
2Department of Neurology, Christian-Albrechts University, Kiel, Germany

Correspondence should be addressed to Daniel Martinez-Ramirez; xm.dulascet.socidem@zenitram.leinad

Received 3 May 2019; Accepted 23 May 2019; Published 1 July 2019

Academic Editor: Federico Micheli

Copyright © 2019 Jesus Eduardo Garcia-Berlanga et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background. Autosomal recessive hereditary spastic paraplegias (HSP) are a rare group of hereditary neurodegenerative disorders characterized by spasticity with or without other symptoms. SPG11 gene is the most common cause of autosomal recessive HSP. We report a case of autosomal recessive spastic paraplegia type 76 due to heterozygous variants of CAPN1 in an Argentinean subject. Case Presentation. A 38-year-old Argentinean female presented with progressive gait problems and instability of 15-year duration. Oculomotor abnormalities, ataxia, bradykinesia, cervical dystonia, and lower limb pyramidal signs were observed. Brain MRI was unremarkable. Whole-exome sequencing analysis identified two heterozygous variants in CAPN1. Conclusions. Clinicians should screen for CAPN1 mutation in a young female patient without significant family history with a spastic paraplegia syndrome associated with other symptoms.