Late‐Onset, Slowly Progressive Pure Cerebellar Ataxia Associated with a Homozygous Missense Variant in <scp>PNPLA6</scp>

Authors

Saoud Tahsin Swafiri (ORCID: https://orcid.org/0000-0003-3684-9076)
Almudena Ávila‐Fernández
Agustín Querejeta (ORCID: https://orcid.org/0000-0001-8289-8552)
Ana Arteche‐López (ORCID: https://orcid.org/0000-0002-4806-9774)
María José Trujillo-Tiebas
Carlos Ordás (ORCID: https://orcid.org/0000-0003-3551-8769)
Laura Santos Sánchez de las Matas (ORCID: https://orcid.org/0000-0001-5660-8865)

Institutions

Universidad Rey Juan Carlos (ES)
Instituto de Salud Carlos III (ES)
Hospital Universitario Rey Juan Carlos (ES)
Hospital Universitario 12 De Octubre (ES)
Centre for Biomedical Network Research on Rare Diseases (ES)
Hospital Universitario Fundación Jiménez Díaz (ES)
Hospital Universitario Infanta Leonor (ES)
Universidad Autónoma de Madrid (ES)

Publication Details

Journal: Movement Disorders Clinical Practice
Published: 2025-11-29
DOI: https://doi.org/10.1002/mdc3.70460
Primary Topic: Genetic Neurodegenerative Diseases
Type: article
Field-Weighted Citation Impact: 0.00

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article

Late‐Onset, Slowly Progressive Pure Cerebellar Ataxia Associated with a Homozygous Missense Variant in PNPLA6

Saoud Tahsin Swafiri, Almudena Ávila‐Fernández, Agustín Querejeta, Ana Arteche‐López et al.

Nov 29, 2025

Movement Disorders Clinical Practice

Genetic Neurodegenerative Diseases

article

Late‐Onset, Slowly Progressive Pure Cerebellar Ataxia Associated with a Homozygous Missense Variant in PNPLA6

Saoud Tahsin Swafiri, Almudena Ávila‐Fernández, Agustín Querejeta, Ana Arteche‐López, María José Trujillo-Tiebas, Carlos Ordás, Laura Santos Sánchez de las Matas

November 29, 2025article en

Abstract

No abstract available for this paper.

Movement Disorders Clinical Practice

Universidad Rey Juan Carlos (ES), Instituto de Salud Carlos III (ES), Hospital Universitario Rey Juan Carlos (ES), Hospital Universitario 12 De Octubre (ES), Centre for Biomedical Network Research on Rare Diseases (ES), Hospital Universitario Fundación Jiménez Díaz (ES), Hospital Universitario Infanta Leonor (ES), Universidad Autónoma de Madrid (ES)

Openalex Percentile: Top 60%

Genetic Neurodegenerative Diseases

DOI Source OpenAlex

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Late‐Onset, Slowly Progressive Pure Cerebellar Ataxia Associated with a Homozygous Missense Variant in <scp>PNPLA6</scp> — Saoud Tahsin Swafiri, Almudena Ávila‐Fernández, et al. · Movement Disorders Clinical Practice (2025) | TGRS Research Map | TGRS