Table 1.

Clinical characteristic of five CAFSA patients. Patients 1 and 2 are siblings

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5
Sex	Female	Female	Male	Male	Female
Age of onset (ataxia) (years)	24	20	22	20	10
Age at examination (years)	34	37	23	35	19
Family history	Yes	Yes	No	No	No
Cerebellar gait ataxia	+++	++	+++	+++	+++
Cerebellar dysarthria	++	+	+	+	++
Eye movements	Slow saccades	Slow saccades	Normal	Slow saccades	Slow saccades
Tendon reflexes UL	+2	+1	+4	+2	0
Tendon reflexes LL	+1	0	+1	+2	0
Plantar reflexes	Flexor	Flexor	Flexor	Flexor	Extensor
Peripheral nerve electrophysiology	Sensory axonal neuropathy	ND	Motor axonal neuropathy	Motor axonal neuropathy	Sensory and motor demyelinating neuropathy
Conduction velocities; Amplitudes (normal values)	Ulnar Sensory; amplitude	ND	Peroneal Motor	Peroneal Motor	Peroneal Motor
	5.7 μV (>8 μV)		45 m/s (>42 m/s); 0.4 mV	32 m/s (>45 m/s);	21 m/s (>40 m/s);
			(>3 mV)	0.5 mV (>3.4 mV)	2.1 mV (>2.4 mV)
Cognition/Behavioral decline	Frontal syndrome (attention deficit)	Paranoid episodes	Marked mental slowness	Frequent anger outbursts	Low range IQ (88), attention deficit
Other	Dystonia/Epilepsy	_	_	Ptosis/external ophthalmoplegia	_
Hearing loss	_	_	+++	+++	+
Vision loss	_	_	_	Mixed retinal dystrophy	_
Non-neurological	_	_	Growth retardation	Bifascicular block	Growth retardation
Features				Cataract	Long QT interval
					Glomerulosclerosis

UL = upper limbs; LL = lower limbs; + (mild), ++ (moderate), +++ (severe); – (not present).