Chorea-acanthocytosis: Time-dependent changes of symptoms and imaging findings - 28/12/19

Doi : 10.1016/j.neurad.2019.11.006

Fumio Suzuki ^a,^b, Noriko Sato ^a,⁎ , Atsuhiko Sugiyama ^c, Keiya Iijima ^d, Yoko Shigemoto ^a, Emiko Morimoto ^a, Yukio Kimura ^a, Hiroyuki Fujii ^a, Yuji Takahashi ^e, Yasuhiro Nakata ^f, Hiroshi Matsuda ^g, Osamu Abe ^b
^a Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1, Ogawahigashi, 187-8551 Kodaira, Tokyo, Japan
^b Department of Radiology, Graduate School of Medicine, University of Tokyo, 7-3-1, Hongo, 113-8655 Bunkyo-ku, Tokyo, Japan
^c Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1, Inohana, 260-8670 Chuo-ku, Chiba, Japan
^d Department of Neurosurgery, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, 187-8551 Kodaira, Tokyo, Japan
^e Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1, Ogawahigashi, 187-8551 Kodaira, Tokyo, Japan
^f Department of Neuroradiology, Tokyo Metropolitan Neurological Hospital, 2-6-1, Musashidai, 183-0042 Fuchu, Tokyo, Japan
^g Integrative Brain Imaging Center, National Center of Neurology and Psychiatry, 4-1-1, Ogawahigashi, 187-8551 Kodaira, Tokyo, Japan

^⁎Corresponding author.

Sous presse. Épreuves corrigées par l'auteur. Disponible en ligne depuis le Saturday 28 December 2019
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Graphical abstract

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Highlights

•	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.

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Abstract

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.

Results

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.

Conclusion

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.

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Keywords : Chorea-acanthocytosis, Epilepsy, Involuntary movements, MRI, SPECT

Abbreviation : eZIS