Case of Friedreich Ataxia: Affecting 3 Members of a Family
Abstract
Friedreich’s ataxia (FA) is an autosomal recessive inherited disorder, characterised by degeneration of the sensory neurons in the spinal cord, posterior column (tract of Gall and Burdach), pyramidal tracts. We report a case of 13 year old girl, known case of type 1 diabetes mellitus, with progressive difficulty in walking, absent deep tendon reflexes in bilateral lower limb, bilateral extensor plantar, scoliosis, pes cavus deformity, T inversion in inferior limb leads and with normal fundus and other lab investigation. Her EMG-NCV study showed axonal and demyelinating neuropathy in lower limb with gene analysis testing for frataxin showing homozygous GAA repeat (60 in number) confirming the diagnosis of Friedreich’s ataxia. On eliciting the family history similar complaints were also present in 2 out of 3 siblings of the patient.
References
2. Delatycki MB, Corben LA. Clinical features of Friedreich ataxia. J Child Neurology 2012; 27(9): 1133-1137
3. Campuzano V, Montermini L, Molto M et al. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271:1423–1427.
4. Stolle CA, Frackelton EC, McCallum J, Farmer JM, Tsou A, Wilson RB, et al. Novel, complex Interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late onset Friedreich ataxia. Mov Disord. 2008 Jul 15. 23(9):13036.
5. Li K, Besse EK, Ha D, Kovtunovych G, Rouault TA. Iron dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia. Hum Mol Genet. 2008;17(15):226573.
6. Cossee M, Durr A, Schmitt M et al. Friedreich’s ataxia: point mutations and clinical presentation of compound heterozygotes. Ann. Neurol. 1999;45, 200–206.
7. Gellera C, Castellotti B, Mariotti C, Mineri R et al. Frataxin gene point mutations in Italian Friedreich ataxia patients. Neurogenetics. 2007;8:289–299.