title: Very late-onset friedreich ataxia with laryngeal dystonia.
abstract: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion in intron 1 of the frataxin gene (FXN) on chromosome 9q13-q21.1. Onset is usually in the first or second decade of life; however, late-onset cases of Freidreich ataxia (LOFA), after the age of 25 years, and very late-onset cases of Freidreich ataxia (VLOFA), after the age of 40 years, have been reported. VLOFA is quite rare and usually presents a milder progression of the disease. We report the case of a 64-year-old woman affected with VLOFA whose first symptoms (balance and gait disturbances) occurred at the age of 44 years. At the age of 62 years, she started complaining of a slowly progressive dysphonia showing the clinical aspects of laryngeal dystonia. Molecular analysis showed a 210- and 230-trinucleotide GAA repeat expansion in the two alleles of the FXN gene. Laryngeal dystonia has been reported only in very few cases of ataxia syndrome and never before in FRDA patients. It may represent a rare clinical manifestation of VLOFA thus confirming the high variability of the clinical spectrum of FRDA.
authors: Section for Neuromuscular Diseases and Neuropathies, Unit of Clinical Neurology, University Hospital 'Spedali Civili', Brescia, Italy.
authors: Silvia
authors: S
authors: Rota
authors: Unit of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
authors: Eleonora
authors: E
authors: Marchina
authors: Section for Neuromuscular Diseases and Neuropathies, Unit of Clinical Neurology, University Hospital 'Spedali Civili', Brescia, Italy.
authors: Alice
authors: A
authors: Todeschini
authors: Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.
authors: Lorenzo
authors: L
authors: Nanetti
authors: Section for Neuromuscular Diseases and Neuropathies, Unit of Clinical Neurology, University Hospital 'Spedali Civili', Brescia, Italy.
authors: Fabrizio
authors: F
authors: Rinaldi
authors: Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.
authors: Alessandra
authors: A
authors: Vanotti
authors: Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.
authors: Caterina
authors: C
authors: Mariotti
authors: Section for Neuromuscular Diseases and Neuropathies, Unit of Clinical Neurology, University Hospital 'Spedali Civili', Brescia, Italy.
authors: Alessandro
authors: A
authors: Padovani
authors: Section for Neuromuscular Diseases and Neuropathies, Unit of Clinical Neurology, University Hospital 'Spedali Civili', Brescia, Italy.
authors: Massimiliano
authors: M
authors: Filosto
keywords: Autosomal recessive neurodegenerative disorder; Friedreich ataxia; Laryngeal dystonia