Severe Cerebral White Matter Involvement in a Case of Dentatorubropallidoluysian Atrophy Studied at Autopsy | Epilepsy and Seizures | JAMA Neurology | JAMA Network
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June 2004

Severe Cerebral White Matter Involvement in a Case of Dentatorubropallidoluysian Atrophy Studied at Autopsy

Author Affiliations

From the Movement Disorders and Neurogenetic Units, Neurology Service, Institut Clínic de Malatìes del Sistema Nerviós (Drs Muñoz, Campdelacreu, and Tolosa), and Neuroradiology, Centre de Diagnòstic per la Imatge (Dr Gómez), Hospital Clínic i Universitari, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Brain Bank of the University of Barcelona (Drs Ferrer, Rey, Cardozo, and Tolosa), and Institute of Neuropathology, Pathology Service, Hospital de Bellvitge, Hospitalet de Llobregat (Dr Ferrer), Barcelona, Spain.

Arch Neurol. 2004;61(6):946-949. doi:10.1001/archneur.61.6.946

Background  The pathophysiology of white matter involvement in dentatorubropallidoluysian atrophy (DRPLA) is controversial. Moreover, the clinical repercussions and evolution of these lesions have not been well documented.

Objective  To describe a case of DRPLA with severe cerebellar white matter involvement.

Design  Case report.

Patient  A 62-year-old woman with DRPLA.

Results  When the genetic diagnosis was made, the patient manifested severe ataxia, slight dysarthria, and subcortical cognitive impairment. Cranial magnetic resonance imaging showed atrophy of the cerebellum and brainstem and moderate high-intensity signal alterations in the periventricular cerebral white matter in T2-weighted sequences. In the following 5 years, she developed uncontrolled head movements associated with severe bruxism and tetraparesis, and became deeply demented. New magnetic resonance imaging showed severe diffuse cerebral white matter alterations in T2 sequences with only slight progression of brainstem and cerebellar atrophy. After her death at 67 years of age, the autopsy study showed diffuse myelin pallor, axonal preservation, and reactive astrogliosis in the cerebral white matter, with only mild atherosclerotic changes, and moderate neuronal loss in the cerebellum and brainstem.

Conclusions  Leukoencephalopathy could be a prominent finding in some patients with DRPLA, explaining, at least in part, their clinical evolution. In our case, the disproportion between the severity of white matter damage and vascular changes does not support a cardinal role for ischemic mechanisms in leukoencephalopathy.