A family with Friedreich ataxia and onion-bulb formations at sural nerve biopsy

Annals of the New York Academy of Sciences

Volumn 883, Issue , 1999, Pages 466-468

  Barreira, Amilton Antunes ^a,c   Marques Jr , W ^a   Sweeney, M G ^a   Davis, M B ^b   Chimelli, L ^a   Paco Larson M L ^a   Wood, N W ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c Departamento de Neurologia   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ALLIUM CEPA; ATAXIA;

ADULT; ARTICLE; BIOPSY; CASE REPORT; FEMALE; FRIEDREICH ATAXIA; GENETICS; HUMAN; MALE; MYELINATED NERVE; PATHOLOGY; PATHOPHYSIOLOGY; SURAL NERVE; ULTRASTRUCTURE;

ADULT; BIOPSY; FEMALE; FRIEDREICH ATAXIA; HUMANS; MALE; NERVE FIBERS, MYELINATED; SURAL NERVE;

EID: 0033554327     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1999.tb08612.x     Document Type: Article

References (6)

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2. RAGNO, M., et al. 1997. Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia. Neurology 49(6): 1617-1620.
3. SCHÖLS, et al. 1997. Friedreich's ataxia. Revision of the phenotype according to molecular genetics. Brain 120(12): 2131-2140.
4. HANNA, M.G., et al. 1998. Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion. Mov. Disord. 13(2), 339-340.
5. JITPIMOLMARD, S., et al. 1993. The sensory neuropathy of Friedreich's ataxia: an autopsy study of a case prolonged survival. Acta Neuropathol. (Berlin) 86(1): 29-35.
6. SANTORO, L., et al. 1990. Electrophysiological and histological follow-up study in 15 Friedreich's ataxia patients. Muscle Nerve 13(6): 536-540.