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Very late-onset friedreich ataxia with laryngeal dystonia.

Rota S, Marchina E, Todeschini A, Nanetti L, Rinaldi F, Vanotti A, Mariotti C, Padovani A, Filosto M - Case Rep Neurol (2014)

Bottom Line: 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.It may represent a rare clinical manifestation of VLOFA thus confirming the high variability of the clinical spectrum of FRDA.

View Article: PubMed Central - PubMed

Affiliation: Section for Neuromuscular Diseases and Neuropathies, Unit of Clinical Neurology, University Hospital 'Spedali Civili', Brescia, Italy.

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.

No MeSH data available.


Related in: MedlinePlus

MRI of the brain. No significant cortical (a) or cerebellar atrophy (b) is present. The brain stem is normal.
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Figure 1: MRI of the brain. No significant cortical (a) or cerebellar atrophy (b) is present. The brain stem is normal.

Mentions: MRI of the brain (fig. 1), MRI spectroscopy and SPECT were unremarkable. Evoked motor and sensory potentials showed slowed central conduction velocity. Nerve conduction studies and electromyography were normal. The videofluoroscopic swallowing study was normal.


Very late-onset friedreich ataxia with laryngeal dystonia.

Rota S, Marchina E, Todeschini A, Nanetti L, Rinaldi F, Vanotti A, Mariotti C, Padovani A, Filosto M - Case Rep Neurol (2014)

MRI of the brain. No significant cortical (a) or cerebellar atrophy (b) is present. The brain stem is normal.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4296233&req=5

Figure 1: MRI of the brain. No significant cortical (a) or cerebellar atrophy (b) is present. The brain stem is normal.
Mentions: MRI of the brain (fig. 1), MRI spectroscopy and SPECT were unremarkable. Evoked motor and sensory potentials showed slowed central conduction velocity. Nerve conduction studies and electromyography were normal. The videofluoroscopic swallowing study was normal.

Bottom Line: 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.It may represent a rare clinical manifestation of VLOFA thus confirming the high variability of the clinical spectrum of FRDA.

View Article: PubMed Central - PubMed

Affiliation: Section for Neuromuscular Diseases and Neuropathies, Unit of Clinical Neurology, University Hospital 'Spedali Civili', Brescia, Italy.

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.

No MeSH data available.


Related in: MedlinePlus