TABLE 6-2 continued




Clinical Features

Gotoda et al., 1995


n = 1 male; aged 62 (aged 52 at onset)

Unsteadiness in the dark

Slurred and scanning speech

Moderate ataxia in all extremities

Flexor plantar responses

Reduced reaction to touch and pinprick

No joint position sense in toes

Broad-based and ataxic gait

Romberg sign

No knee or ankle reflexes

Numbness in fingers and toes

Kohlschütter et al., 1988


n = 1 male; aged 19


Sensory neuropathy

Lipopigment deposition

Sokol et al., 1988

United States

n = 1 male and 3 females; aged 21–30

Head titubation

Intention tremor in hand

Difficulty walking

Progressive ataxia


Vibratory and sensory loss


Pes cavus

Position sense loss

Trabert et al., 1989


n = 1 male; aged 26

Cerebellar ataxia

No tendon reflexes in lower limbs

Vibration sense disturbances

Babinsky sign

Head titubation

Ben Hamida et al., 1993


n = 7 Friedreich's ataxia patients; aged 21–34

Severe cerebellar ataxia

Severe dysarthria

Slight deep sensory loss

Slight Babinski signs

Slight Pes cavus

Slight kyphoscoliosis

Absent to moderate cardiomyopathyf

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