TABLE 6-2 continued

Reference

Country

Subjects

Clinical Features

Gotoda et al., 1995

Japan

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

Germany

n = 1 male; aged 19

Ataxia

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

Dysarthria

Vibratory and sensory loss

Incontinence

Pes cavus

Position sense loss

Trabert et al., 1989

Germany

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

Tunisia

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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