Leukodystrophies are rare degenerative disorders that involve mainly the white matter of the brain. It is associated specific clinical features including neurological deterioration following a period of normal development, predominant involvement of the motor function at least initially, and absence of convulsions or myoclonus. Leukodystrophy with oligodontia is characterized by progressive ataxia beginning during infancy, a pyramidal syndrome (spasticity, hyperreflexia), and dental agenesis.
Atrouni et al. (2003) studied four Syrian sibs of consanguineous parents with oligodontia, a neurodegenerative disease appearing at around age 12 years with abnormalities of the white matter, and cortical atrophy. The patients were one brother and three sisters. The authors suggested an autosomal recessive inheritance of the disease due to the presence of consanguinity. Later, Chouery et al (2010) used microsatellite markers to narrow down the locus of the causal gene in this family to a region on chromosome 10q22.