Scrimgeour et al. (1996) described a large inbred Saudi family with Friedreich’s ataxia disease living near Jeddah.  All affected patients, five siblings and their 27 year old cousin, had typical FA symptoms, including progressive ataxia of limbs and gait, lower limb tendon areflexia, and sensory axonal neuropathy.  However, two patients had brisk tendon reflexes at knee and ankle after onset of symptoms.  Electrocardiography and nerve conduction studies showed early cardiomyopathy, normal or mildly reduced conduction in motor nerves and reduced or absent conduction in sensory nerves.

In a linkage study of three large Friedreich’s ataxia families of Tunisian origin, Belal et al. (1992) identified a meiotic recombination in an unaffected individual, which excluded a 150-kb segment, including D9S15, as a possible location for the FRDA locus.

Marzouki et al. (2001) described three Tunisian families with early-onset cerebellar ataxia with retained tendon reflexes in which Friedreich ataxia, vitamin E deficiency ataxia, and known forms of autosomal dominant cerebellar ataxia were excluded by linkage analysis.

Bouhlal et al. (2008) reported an unusual, highly consanguineous Tunisian family in which 11 individuals had autosomal recessive ataxia caused by three distinct gene defects.  Seven patients who also had low vitamin E levels were all homozygous for the common 744delA mutation in the TTPA gene, consistent with a diagnosis of vitamin E deficiency ataxia (AVED).  Two patients with normal vitamin E levels were homozygous for a mutation in the FXN gene, consistent with a diagnosis of Friedreich ataxia.  The final two patients with normal vitamin E levels carried a mutation in the SACS gene, consistent with a diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).  The clinical phenotype was relatively homogeneous, although the two patients with SACS mutations had hyperreflexia of the knee.  One asymptomatic family member was compound heterozygous for the TTPA and FXN mutations.