Very late-onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type

Movement Disorders

Volumn 20, Issue 12, 2005, Pages 1643-1645

  Berciano, José ^a   Infante, Jon ^a   García, Antonio ^a   Polo, José Miguel ^a   Volpini, Victor ^b   Combarros, Onofre ^a  

^a HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^b Institut de Recerca Oncologica   (Spain)

Author keywords

Friedreich's ataxia; GAA1 dynamic expansion; Idiopathic late onset cerebellar ataxia; Multiple system atrophy

Indexed keywords

ADENINE; GUANINE; GPAA1 PROTEIN, HUMAN; MEMBRANE PROTEIN;

AGED; ARTICLE; ATAXIA; CASE REPORT; CEREBELLUM ATROPHY; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; EVOKED SOMATOSENSORY RESPONSE; FRIEDREICH ATAXIA; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; MALE; MOTOR NERVE CONDUCTION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SHY DRAGER SYNDROME; TRINUCLEOTIDE REPEAT; CEREBELLUM; GENETICS; METHODOLOGY; NERVE CONDUCTION; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; SPINAL CORD;

AGE OF ONSET; AGED; CEREBELLUM; EVOKED POTENTIALS, SOMATOSENSORY; FRIEDREICH ATAXIA; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE GLYCOPROTEINS; MULTIPLE SYSTEM ATROPHY; NEURAL CONDUCTION; SPINAL CORD; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 33644947582     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.20644     Document Type: Article

References (12)

1. Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335: 1169-1175.
2. Schöls L, Amoiridis G, Przuntek H, Frank G, Epplen JT, Epplen C. Friedreich's ataxia. Revision of the phenotype according to molecular genetics. Brain 1997;120:2131-2140.
3. Bidichandani SI, García CA, Patel PI, Dimachkie MM. Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions. Arch Neurol 2000;57:246-251.
4. Gilman S, Low PA, Quinn N, et al. Consensus statement on the diagnosis of multiple system atrophy. J Neurol Sci 1999;163:94-98.
5. Quinn N. Multiple system atrophy. In: Marsden CD, Fahn S, editors. Movement disorders, III. Boston: Butterworth-Heineman; 1994. p 262-281.
6. Wenning GK, Ben Shlomo Y, Magalhaes M, Daniel SE, Quinn NP. Clinical features and natural history of multiple system atrophy. An analysis of 100 cases. Brain 1994; 117:835-845.
7. Moschner C, Perlman S, Baloh RW. Comparison of oculomotor findings in the progressive ataxia syndromes. Brain 1994; 117:15-25.
8. Klockgether T, Chamberlain S, Wüllner U, et al. Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging. Arch Neurol 1993;50:803-806.
9. Schöls L, Szymanski S, Sören P, et al. Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum Genet 2000; 107:132-137.
10. Abele M, Bürk K, Schöls L, et al. The etiology of sporadic adult-onset ataxia. Brain 2002;125:961-968.
11. McDaniel DO, Keats B, Vedanarayanan VV, Subramony SH. Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia. Mov Disord 2001; 16:1153-1158.
12. Sorbi S, Forleo P, Piacentini S, et al. Atypical Friedreich ataxia with a very late onset and unusual limited GAA repeat. Arch Neurol 2000;57:1380-1381.