Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia

Cláudia Fernandes Lorea; Renata Barreto Tenório; Michel Koenig; Angela Huebner; Katrin Koehler; David Devos; Claire Guissart; Jonas Alex Morales Saute

doi:10.1007/s12311-020-01123-9

Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia

Cerebellum. 2020 Jun;19(3):465-468. doi: 10.1007/s12311-020-01123-9.

Authors

Cláudia Fernandes Lorea^{1

2}, Renata Barreto Tenório², Michel Koenig³, Angela Huebner⁴, Katrin Koehler⁴, David Devos^{5

6}, Claire Guissart³, Jonas Alex Morales Saute^{7

8

9

10}

Affiliations

¹ Hospital Escola da Universidade Federal de Pelotas, Pelotas, RS, Brazil.
² Medical Genetics Division, Hospital de Clínicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Porto Alegre, RS, Zip Code 90.035-903, Brazil.
³ Laboratoire de Génétique de Maladies Rares EA7402, Institut Universitaire de Recherche Clinique, Université de Montpellier, Montpellier, France.
⁴ Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
⁵ Pole de Neurologie Department of Neurology and Movement Disorders, Université Lille Nord De France, Université de Médecine, XEA 5947, IMPRT, CHU, 59037, Lille, France.
⁶ Département de Génétique et Cytogénétique GHU Pitié-Salpêtrière, CNRS UMR7225, Inserm U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, GHU Pitié-Salpêtrière France, Université Pierre et Marie Curie - Univ Paris 6, APHP, 75651, Paris, France.
⁷ Medical Genetics Division, Hospital de Clínicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Porto Alegre, RS, Zip Code 90.035-903, Brazil. jsaute@hcpa.edu.br.
⁸ Neurology Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil. jsaute@hcpa.edu.br.
⁹ Postgraduate program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. jsaute@hcpa.edu.br.
¹⁰ Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. jsaute@hcpa.edu.br.

PMID: 32146693
DOI: 10.1007/s12311-020-01123-9

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Brazil
Female
Humans
Intellectual Disability / genetics*
Male
Morocco
Muscle Spasticity / genetics*
Mutation
Nerve Tissue Proteins / genetics*
Nuclear Pore Complex Proteins / genetics*
Optic Atrophy / genetics*
Pedigree
Phenotype
Spastic Paraplegia, Hereditary / genetics*
Spinocerebellar Ataxias / genetics*

Substances

AAAS protein, human
Nerve Tissue Proteins
Nuclear Pore Complex Proteins

Supplementary concepts

Spastic Ataxia