Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia

Around a quarter of Friedreich ataxia (FA) patients, despite being homozygous for GAA expansion within the FRDA gene, show atypical presentations. Our aim is to describe the case of three brothers with long-term follow-up suffering from late onset FA manifested with spastic ataxia. The three patient...

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Veröffentlicht in:	Journal of the neurological sciences 2002-02, Vol.194 (1), p.75-82
Hauptverfasser:	Berciano, J, Mateo, I, De Pablos, C, Polo, J.M, Combarros, O
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Adult-onset spastic ataxia Age of Onset Arnold-Chiari Malformation - complications Arnold-Chiari Malformation - genetics Arnold-Chiari Malformation - pathology Biological and medical sciences Cardiomyopathies - complications Cardiomyopathies - diagnosis Cerebellum - pathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Disease Progression Friedreich ataxia Friedreich Ataxia - complications Friedreich Ataxia - diagnosis Friedreich Ataxia - physiopathology GAA expansion Gait Ataxia - etiology Gait Ataxia - physiopathology Genes, Dominant Genetic Carrier Screening Homozygote Humans Magnetic Resonance Imaging Male Medical sciences Middle Aged Muscle Spasticity - etiology Muscle Spasticity - physiopathology Neural Conduction Neurology Nuclear Family Occipital Bone - abnormalities Occipital Bone - pathology Pedigree Phenotype Spinal Cord - pathology Trinucleotide Repeat Expansion - genetics
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