Hereditary Leukoencephalopathy Causes Ataxia, Tremor

NEW YORK (Reuters Health) - An inherited disease causing slowly progressive sensory ataxia and tremor is characterized by hemispheric white matter lesions visible on MRI and high brain lactate levels, physicians in Finland report.

A recent report described eight patients with a new entity characterized by progressive pyramidal, cerebellar, and often dorsal column dysfunction and elevated lactate within the white matter. In a paper in the August 24th issue of Neurology, lead author Dr. Tarja Linnankivi and colleagues report on five patients from four families with a similar phenotype.

The patients were three females and two male siblings. Initial symptoms of ataxia and tremor began between ages 2.5 and 10 years old. One patient has had no symptoms other than seizures at age 6.

Dr. Linnankivi's group has followed the patients for at least 2 years each. They now range in age from 11 to 30 years old. The patients are affected by a mild exercise intolerance, the authors note, and worsening of ataxia during infections.

"MRI showed signal abnormalities in the periventricular and deep white matter, in the pyramidal tracts, mesencephalic trigeminal tracts, in the cerebellar connections, and in dorsal columns of the spinal cord," the physicians write. In the more affected patients, signal abnormalities were homogeneous, involving almost the entire deep white matter.

Magnetic resonance spectroscopy revealed elevated lactate, normal or elevated choline-containing compounds, and decreased N-acetylaspartate in the abnormal white matter.

The elevated lactate levels, exercise intolerance, and worsening symptoms during infection indicate that the leukoencephalopathy may be a mitochondrial disorder, Dr. Linnankivi's group suggests. Given the observed familial patterns, they believe that the disorder is one of autosomal recessive inheritance.

Source: Neurology 2004;73:688-692. [ Google search on this article ]

MeSH Headings: Nervous System Diseases : Neurologic Manifestations : Signs and Symptoms : Pathological Conditions, Signs and Symptoms : Gait Disorders, Neurologic : Gait Ataxia : Diseases

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