TABLE 6-2 continued

Reference

Country

Subjects

Clinical Features

Shorer et al., 1996

Israel

n = 4 females (sisters); aged 11–24

Dysarthria

Absent tendon reflexes

Intention tremor

Gait ataxia

Pes cavus

Hyperlordosis

Retinopathy

Hammans and Kennedy, 1998

United Kingdom

n = 1; female; aged 16 (age 6 at onset)

Mild thoracic scoliosis

Head titubation

Gait and limb ataxia

Areflexia

Upgoing plantar responses

Dysarthria

Martinello et al., 1998

Italy

n = 1 male; aged 26 (age 5 at onset)

Ataxia

No deep tendon reflexes

Decreased muscle strength

Diminished trophism

Bilateral Babinski's sign

Scoliosis

Reduced vibratory sensation

Severe dysmetria and dysarthria

Bilateral pes cavus

Fasciculations of the tongue

NOTES: Lipid absorption was normal in all cases. There were no reports of anemia, lipid peroxidation products, or lipofuscin.

a α-TTP gene = α-tocopherol transfer protein gene.

b ND = not determined.

Oxidation Products of DNA or Proteins

Vitamin E has not been shown to directly protect deoxyribonucleic acid (DNA) or proteins against oxidative damage (Halliwell, 1999). Therefore, DNA adducts or protein carbonyls were not used to assess α-tocopherol requirements.

Vitamin E Metabolite Excretion

Excretion of vitamin E metabolites have been shown in one study to increase with increasing vitamin E intake in humans (Schultz et al., 1995). Increasing amounts of 2,5,7,8-tetramethyl-2-(2′-carboxy-



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