Autosomal recessive cerebellar ataxias

Table 2 Frequency of the clinical signs in Friedreich ataxia

Clinical sign	Harding^(a) [77] (115 patients)	Dürr et al.^(b) [78] (140 patients)	Palau^(c) [80] (231 patients)
	%
Gait ataxia	100	100	100
Limb ataxia	100	99	99
Dysarthria	97	91	91
Lower limb areflexia	99	87	86
Loss of vibration sense	73	78	85
Extensor plantar response	89	79	84
Muscle weakness in lower limbs	88	67	-
Scoliosis	79	60	79
Pes cavus	55	55	77
Horizontal nystagmus	20	40	54
Saccadic-pursuit eye movements	12	30	-
Swallowing difficulties	-	27	-
Sphincter disturbances	-	23	-
Reduced visual acuity	18	13	-
Hearing loss	8	13	2
Sensitive axonal neuropathy	96	98	98
Cardiomyopathy	70 (ECG)	63 (ECG)	74 (ECG)
Abnormal brain-stem evoked potentials	-	61	-
Abnormal visual evoked potentials	-	34	-
Diabetes mellitus or glucose intolerance	10	32	13

(a) The series is based on clinical diagnosis.
(b) and (c) Data are based on genetic diagnosis (patients homozigotes for the GAA expansion)

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