Clinical Neuropathology, Volume 39 (2020) - July/August (162 - 166)

Overlapping neuropathological findings in an asymptomatic SPAST gene mutation carrier
Sara Forcén1, Ane Miren Crespo Cuevas1, Iban Aldecoa2, 3, Oscar Ramos2, Lourdes Ispierto1, Ramiro Álvarez1, Dolores Vilas1
1 Movement Disorders Unit, Neurology Department, Hospital Universitari Germans Trias i Pujol, Badalona, 2 Neurological Tissue Bank of the Biobanc-Hospital Clinic-IDIBAPS, and 3 Pathology Department, Biomedical Diagnostic Center, Hospital Clinic, Barcelona, Spain

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DOI 10.5414/NP301239

Abstract

Hereditary spastic paraparesis (HSP) caused by mutations in the SPAST (SPG4) gene are autosomal-dominant inherited disorders characterized by weakness of lower extremities, spasticity and hyperreflexia. Some cases with cognitive decline have been repored. Herein we present an asymptomatic carrier of a SPAST gene mutation who developed an adult-onset cognitive decline, compatible with Alzheimer’s disease with co-pathologies such as argyrophylic grain disease and cerebrovascular pathology. No pathological changes described in HSP patients were present in this case.

Author Details

Authors

Departments

  • 1 Movement Disorders Unit, Neurology Department, Hospital Universitari Germans Trias i Pujol, Badalona,
  • 2 Neurological Tissue Bank of the Biobanc-Hospital Clinic-IDIBAPS, and
  • 3 Pathology Department, Biomedical Diagnostic Center, Hospital Clinic, Barcelona, Spain

Address

Dolores Vilas Rolán, MD, PhD
Neurodegenerative Diseases Unit
Neurology Department
Hospital Universitari Germans Trias i Pujol
Carretera Canyet s/n, 08916 Barcelona, Badalona, Spain
Email: [email protected]

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Citation

Forcén S, Crespo Cuevas AM, Aldecoa I, Ramos O., Ispierto L, Álvarez R, Vilas D.Overlapping neuropathological findings in an asymptomatic SPAST gene mutation carrier. Clin Neuropathol. 2020; 39: 162-166. doi: 10.5414/NP301239. Pubmed: https://pubmed.ncbi.nlm.nih.gov/32213280/; PMID: 32213280.

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