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Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.

Fecha de publicación: Fecha Ahead of Print:

Autores de CIPF

Participantes ajenos a CIPF

  • Baviera-Muñoz R
  • Campins-Romeu M
  • Carretero-Vilarroig L
  • Sastre-Bataller I
  • Martínez-Torres I
  • Vázquez-Costa JF
  • Muelas N
  • Sevilla T
  • Vílchez JJ
  • Bataller L

Grupos de Investigación

Abstract

Spastic paraplegia type 7 (SPG7) is one of the most common hereditary spastic paraplegias. SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes. We sought to clinically and genetically characterize a Spanish cohort of SPG7 patients. Patients were recruited from our HCA and HSP cohorts. We identified twenty-one patients with biallelic pathogenic SPG7 mutations. Mean age at onset was 37.4 years (SD ± 14.3). The most frequent phenotype was spastic ataxia (57%), followed by pure spastic paraplegia (19%) and complex phenotypes (19%). Isolated patients presented with focal or multifocal dystonia, subclinical myopathy or ophthalmoplegia. p.Ala510Val was the most frequent pathogenic variant encountered. Compound heterozygous for p.Ala510Val displayed younger onset (p < 0.05) and more complex phenotypes (p < 0.05) than p.Ala510Val homozygotes. Two novel variants were found: p.Lys559Argfs*33 and p.Ala312Glu. In conclusion, spastic ataxia is the most common phenotype found in Spanish patients. Nonetheless, SPG7 analysis should also be considered in patients with less frequent clinical findings such as dystonia or ophthalmoplegia especially when these symptoms are associated with mild spastic ataxia.

Datos de la publicación

ISSN/ISSNe:
0022-510X, 1878-5883

JOURNAL OF THE NEUROLOGICAL SCIENCES  ELSEVIER SCIENCE BV

Tipo:
Article
Páginas:
118062-118062
PubMed:
34500365

Citas Recibidas en Web of Science: 6

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Keywords

  • Cerebellar ataxia, Neurogenetics, Rare diseases, Spastic paraplegia

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