Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Table 1

Clinical features of Friedrich’s ataxia patients with nonsense mutations.

Mutation	L106X; (Sibling 1)	L106X; (Sibling 2)	W155X	Y118X	W155X; Our patient
Geographical origin	France	France	USA; (Cuban origin)	Italy	USA; (Father Cuban)
GAA repeat size	733	700	850	640	1000
Gender	Male	Male	Male	Male	Male
Age at onset; (years)	9	13	4	14	2.5
Age at last exam (years)	35	32	Unknown	27	8
Gait ataxia	+	+	+	+	+
Nystagmus	+	+	-	+	-
Deep Tendon Reflexes	-	+, upper limbs	-	-	-
Babinski sign	+, unilateral	+	+	+	+
Vibration sense	↓	↓	↓	↓	↓
Foot deformity	+	+	+	-	+
Cardiomyopathy	+	-	+	+	+
Scoliosis	+	+	+	+	+
Optic disks	Pallor	Pallor	No atrophy	No atrophy	No atrophy
Dysarthria	+	+	+	+	+
Diabetes	-	-	-	-	-
Hearing loss	Not reported	Not reported	-	-	-