Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

doi:10.3390/ijms231911847

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Article

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

International journal of molecular sciences - 6 Oct 2022

Martínez-Rubio Dolores, Hinarejos Isabel, Sancho Paula, Gorría-Redondo Nerea, Bernadó-Fonz Raquel, Tello Cristina, Marco-Marín Clara, Martí-Carrera Itxaso, Martínez-González María Jesús, García-Ribes Ainhoa, Baviera-Muñoz Raquel, Sastre-Bataller Isabel, Martínez-Torres Irene, Duat-Rodríguez Anna, Janeiro Patrícia, Moreno Esther, Pías-Peleteiro Leticia, Gordo Mar O'Callaghan, Ruiz-Gómez Ángeles, Muñoz Esteban, Martí Maria Josep, Sánchez-Monteagudo Ana, Fuster Candela, Andrés-Bordería Amparo, Pons Roser Maria, Jesús-Maestre Silvia, Mir Pablo, Lupo Vincenzo, Pérez-Dueñas Belén, Darling Alejandra, Aguilera-Albesa Sergio, Espinós Carmen

Abstract excerpt

Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated cases compatible with abnormal brain iron deposits are known. The patients were evaluated using standardised clinical assessments of ataxia and MDs. First, NBIA genes...

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PMID: 36233161
DOI: 10.3390/ijms231911847
PMCID: PMC9570320

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