Extensive cerebral white matter abnormality without clinical symptoms: A new hereditary condition?

Abstract

A 30‐year‐old father and his 2 sons with slight hyperkinesia and mildly dysmorphic features and their close relatives were examined clinically and with computed tomography (CT) and magnetic resonance imaging (MRI). Neurophysiological and biochemical examinations were normal; however, brain MRI of the father and sons revealed extensive cerebral white matter changes. No radiological progression could be detected at a 13‐year follow‐up examination of the father, and proton magnetic resonance spectroscopy (MRS) of the father at the age of 30 years was normal. MRI findings in the relatives were normal, suggesting an autosomal dominant syndrome due to a new mutation in the father. Ann Neurol 1999;45:801–805

A family with autosomal dominant leukodystrophy linked to 5q23.2–q23.3 without lamin B1 mutations

“…Duplication of the gene encoding lamin B1 (LMNB1) has been implicated as the cause of disease, supported by the presence of the duplication in six ADLD families of different ethnic origin [2][3][4]. However, other ADLD families have been described in the literature in which the underlying genetic defect is presently unknown [5][6][7][8][9][10].…”