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CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76.

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.

SUBMITTER: Garcia-Berlanga JE

PROVIDER: S-EPMC6634065 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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<i>CAPN1</i> Variants as Cause of Hereditary Spastic Paraplegia Type 76.

Garcia-Berlanga Jesus Eduardo JE Moscovich Mariana M Palacios Isaac Jair IJ Banegas-Lagos Alejandro A Rojas-Martinez Augusto A Martinez-Ramirez Daniel D

Case reports in neurological medicine 20190701

<h4>Background</h4>Autosomal recessive hereditary spastic paraplegias (HSP) are a rare group of hereditary neurodegenerative disorders characterized by spasticity with or without other symptoms. <i>SPG11</i> 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 <i>CAPN1</i> in an Argentinean subject.<h4>Case presentation</h4>A 38-year-old Argentinean female presented with progressive gait probl ...[more]

PMID: 31355030

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