CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76
Joint Authors
Rojas-Martinez, Augusto
Garcia-Berlanga, Jesus Eduardo
Moscovich, Mariana
Palacios, Isaac Jair
Banegas-Lagos, Alejandro
Martinez-Ramirez, Daniel
Source
Case Reports in Neurological Medicine
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-07-01
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Garcia-Berlanga, Jesus Eduardo& Moscovich, Mariana& Palacios, Isaac Jair& Banegas-Lagos, Alejandro& Rojas-Martinez, Augusto& Martinez-Ramirez, Daniel. 2019. CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76. Case Reports in Neurological Medicine،Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1141359
Modern Language Association (MLA)
Garcia-Berlanga, Jesus Eduardo…[et al.]. CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76. Case Reports in Neurological Medicine No. 2019 (2019), pp.1-5.
https://search.emarefa.net/detail/BIM-1141359
American Medical Association (AMA)
Garcia-Berlanga, Jesus Eduardo& Moscovich, Mariana& Palacios, Isaac Jair& Banegas-Lagos, Alejandro& Rojas-Martinez, Augusto& Martinez-Ramirez, Daniel. CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76. Case Reports in Neurological Medicine. 2019. Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1141359
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1141359