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The initial symptom of the chorea-acanthocytosis patients was epilepsy in four patients and involuntary movements in three patients, but eventually epilepsy and involuntary movements were noted in five and all patients, respectively.
MRI demonstrated abnormality of hippocampus/amygdala and atrophy of striatum in five and all patients, respectively.
SPECT demonstrated hypoperfusion of striatum in all five available patients.
MRI showed striatum atrophy before hippocampus/amygdala abnormality emerged in most patients, but a hippocampus/amygdala abnormality preceded in one patient.
Background and purpose
Chorea-acanthocytosis, a rare neurodegenerative disease, affects both the striatum and the medial temporal lobe which may cause involuntary movements and epilepsy, respectively. We examined the imaging changes of the hippocampus/amygdala and the striatum as well as clinical symptoms.
Materials and methods
We retrospectively reviewed 29 MRI and 13 SPECT studies and the clinical findings of seven genetically confirmed chorea-acanthocytosis patients. We evaluated the time-dependent imaging changes of the hippocampus/amygdala and striatum and examined the relationships among these images and symptoms.
The initial symptom was epilepsy in four patients and involuntary movements in three patients. These symptoms were eventually noted in five and all seven patients, respectively. On MRI, most patients showed striatum atrophy before a hippocampus/amygdala abnormality emerged, but one patient showed a hippocampus/amygdala abnormality before striatum atrophy. Abnormal MRI findings of hippocampus/amygdala were noted in five patients and atrophy of striatum in all seven patients. SPECT demonstrated hypoperfusion of hippocampus/amygdala in three patients and that of striatum in all five available patients. Four patients demonstrated hypoperfusion of striatum earlier than that of hippocampus/amygdala and one patient showed hypoperfusion of both simultaneously. Many imaging abnormal lesions were accompanied by their corresponding symptoms, but not always so.
Striatum abnormalities were the initial imaging findings in many chorea-acanthocytosis patients, but epilepsy or hippocampus/amygdala imaging abnormalities may be the only findings at the early stage. It is important to understand the detailed clinical and imaging time courses for the diagnosis of chorea-acanthocytosis.Le texte complet de cet article est disponible en PDF.
Keywords : Chorea-acanthocytosis, Epilepsy, Involuntary movements, MRI, SPECT
Abbreviation : eZIS
|☆|| This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.