1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-7-61 10.15844/pedneurbriefs-7-8-6 Degenerative Diseases Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Late-Onset Friedreich’s Ataxia http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 08 1993 01 07 2016 7 8 61 62 Copyright: © 1993 The Author(s) 1993 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Late-onset Friedreich’s ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging

Three adult patients from one family with late-onset Friedreich’s ataxia (LOFA) presenting after 25 years (mean age, 30 yrs) were compared with 13 children with classical FA presenting before 20 years (mean age, 13 yrs) and reported from the University of Tubingen, Germany, and St Mary’s Hospital, London, England.

 Late-Onset Friedreich’s Ataxia Cardiomyopathy Dysarthria

Three adult patients from one family with late-onset Friedreich’s ataxia (LOFA) presenting after 25 years (mean age, 30 yrs) were compared with 13 children with classical FA presenting before 20 years (mean age, 13 yrs) and reported from the University of Tubingen, Germany, and St Mary’s Hospital, London, England. Clinical presentation of LOFA and FA were similar, except that muscle wasting, foot deformity, and cardiomyopathy were absent in LOFA patients. Genetic linkage analysis using markers tightly linked to the FA locus on chromosome 9 showed that all affected members of the LOFA family, but not their unaffected siblings, had inherited identical paternal and maternal genotypes. LOFA may result from mutation within the FA locus, giving rise to a more benign and slowly progressive disorder. [1]

COMMENT. With the exception of age of onset, all patients with LOFA satisfied the basic diagnostic criteria for classical Friedreich’s ataxia: 1) progressive ataxia; 2) family history with autosomal-recessive inheritance; 3) loss of tendon reflexes in lower limbs; 4) dysarthria; and 5) posterior column signs. The more benign ‘Acadian’ subtype (Barbeau et al, 1984) has previously been differentiated from the classical, French and French Canadian, type of FA and has been attributed to a mutation at the same locus. [2]

 Klockgether T Chamberlain S Wullner U Fetter M Dittmann H Petersen D Late-onset Friedreich’s ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging Arch Neurol 1993 Aug 50 8 803 806 8352664 Keats BJ Ward LJ Shaw J Wickremasinghe A Chamberlain S “Acadian” and “classical” forms of Friedreich ataxia are most probably caused by mutations at the same locus Am J Med Genet 1989 Jun 33 2 266 268 10.1002/ajmg.1320330224 2764036