Recessively Inherited Ataxias

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ATAXIA TELANGIECTASIA (Louis-Bar Syndrome)

This multisystem disorder is characterised by progressive cerebellar ataxia, ocular and cutaneous telangiectasia and immunodeficiency. The gene defect has been localised to chromosome 11.

Pathologically, widespread cerebellar Purkinje and granular cell loss occurs.

A progressive ataxia develops in infancy. Telangiectasia develops later, becoming more obvious after exposure to the sun. Prevalence similar to Freidrich's ataxia.

Patients are eventually confined to a wheelchair and, because of associated low serum immunoglobulin levels are susceptible to repetitive infections. Malignant neoplasms occur in 10%.

Giving radiotherapy for these tumours causes an increased incidence of chromosomal breakage and rearrangement, suggesting defective DNA repair mechanisms.

Death occurs in second or third decade from infection or malignancy (often lymphoma).

FRIEDRICH'S ATAXIA

Prevalence: 2 per 100 000 persons.

The responsible gene has been localised to chromasome 9. The spectrum of abnormalities relating to the gene locus is wide but ataxia, areflexia, dysarthria and decreased proprioception are present in all cases.

Pathology:

Spinal: The spinal cord is shrunken, especially in the thoracic region. There is degeneration, demyelination and gliosis of:

1. - Posterior columns

2. - Corticospinal tracts

3. - Dorsal spinocerebellar tracts

4. - Ventral spinocerebellar tracts.

Dorsal roots and peripheral nerves are shrunken in advanced cases.

Cerebellar: Changes in the cerebellum are less marked, there is Purkinje cell loss and atrophy of the dentate nucleus.

Peripheral nerves show loss of large myelinated axons and segmental demyelination. The corticobulbar tract and cerebrum are relatively spared.

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