The Quebec Cooperative Study on Friedreich's ataxia required an onset before age 20 as an obligatory criterion of Friedreich's disease (FD). Harding included patients with onset before 25 years. We studied nine patients with FD phenotype but with onset ranging from 21 to 29 years (mean 24.4). Statistical analysis of the distribution and intrafamilial variation of onset age suggests that late onset Friedreich's disease (LOFD) is a distinct genetic entity or results from modifying genes in some families. Scoliosis was less common in LOFD than FD patients but otherwise the clinical picture was similar.

Late onset recessive ataxia with Friedreich's disease phenotype / DE MICHELE, Giuseppe; Filla, Alessandro; Barbieri, Fabrizio; A., Perretti; Santoro, Lucio; L., Trombetta; F., Santorelli; G., Campanella. - In: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. - ISSN 0022-3050. - ELETTRONICO. - 52:(1989), pp. 1398-1401.

Late onset recessive ataxia with Friedreich's disease phenotype.

DE MICHELE, GIUSEPPE;FILLA, ALESSANDRO;BARBIERI, FABRIZIO;SANTORO, LUCIO;
1989

Abstract

The Quebec Cooperative Study on Friedreich's ataxia required an onset before age 20 as an obligatory criterion of Friedreich's disease (FD). Harding included patients with onset before 25 years. We studied nine patients with FD phenotype but with onset ranging from 21 to 29 years (mean 24.4). Statistical analysis of the distribution and intrafamilial variation of onset age suggests that late onset Friedreich's disease (LOFD) is a distinct genetic entity or results from modifying genes in some families. Scoliosis was less common in LOFD than FD patients but otherwise the clinical picture was similar.
1989
Late onset recessive ataxia with Friedreich's disease phenotype / DE MICHELE, Giuseppe; Filla, Alessandro; Barbieri, Fabrizio; A., Perretti; Santoro, Lucio; L., Trombetta; F., Santorelli; G., Campanella. - In: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. - ISSN 0022-3050. - ELETTRONICO. - 52:(1989), pp. 1398-1401.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/482034
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