A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

Table 1 Clinical features of family 909 patients. The clinical characteristics of participating patients are presented below.

Clinical feature	*Patient*
	II-2	II-3	II-9	II-14
Gender	M	F	F	M
Age of onset	14	14	8	8
Ataxia	+	+	+	+
Dysarthria	+	+	+	+
Abnormal eye movements	+	+	+	+
Deep tendon reflexes	areflexic	areflexic	Areflexic	areflexic
Spasticity in the lower limbs	+	+	+	+
Babinski sign	+	indifferent	+	+
Pes cavus	+	-	+	+
Deep sensation (proprioception and vibration)	reduced	reduced	Reduced	reduced
Scoliosis	+	+	+	+
Muscle weakness in upper limbs	distal	distal	Distal	distal
Muscle weakness in lower limbs	proximal + distal	proximal + distal	proximal + distal	proximal + distal
Muscle atrophy in upper limbs	distal	distal	distal	distal
Muscle atrophy in lower limbs	distal	distal	distal	distal
Cardiomyopathy	-	-	-	-
Diabetes mellitus	+	-	-	-
AFP levels in IU/ml	30.5	29.6	34.0	n/a
MRI signs of cerebellar atrophy	n/a	n/a	n/a	+

ISSN: 1471-2350