Journal of Medical Genetics · 1981 · 16 citations · 3 references
Life SciencesGeneticsNeurologyHuman GeneticsNeurodegenerationNeurogeneticsCongenital DisordersGenetic DisordersHereditary NeuropathiesInborn Errors Of MetabolismNeurogenetic DisordersPediatric Neurologic DisordersAutosomal Recessive InheritanceAutosomal Recessive Neurodegenerative DisordersCongenital Metabolic DisordersInfantile Neuronal DegenerationPediatric Neurogenetic DisordersThalamic DegenerationThalamic Pathology
This is the first observation of two cases of symmetrical infantile thalamic degeneration with cell mineralisation in a family. Although it cannot be established at present, autosomal recessive inheritance of a metabolic error causing or predisposing to damage to specific areas of the central nervous system is a possible aetiology for this condition.
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