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[A case suspected of dystonia with marked cerebellar atrophy with torsion dystonia of the neck and cerebellar ataxia that developed during pharmacologic schizophrenia treatment].
Rinsho Shinkeigaku. 2020 Jul 07 [Online ahead of print]RS

Abstract

A 46 year-old man with schizophrenia had taken several anti-psychotic drugs since 25 years of age. From ~35 years of age, he noticed occasional neck torsion to the left, and later an ataxic gait; both symptoms gradually worsened. On admission, the patient was taking olanzapine (5 mg/day) and biperiden hydrochloride (1 mg/day) because his schizophrenia was well controlled. His parents were not consanguineous, and there was no family history of neuropsychiatric diseases. On neurological examination, he showed mild cognitive impairment, saccadic eye pursuit with horizontal gaze nystagmus, mild dysarthria, dystonic posture and movement of the neck, incoordination of both hands, and an ataxic gait. Deep tendon reflexes were normal except for the patellar tendon reflex, which was exaggerated bilaterally. Pathological reflexes were negative and there was no sign of rigidity, sensory disturbance or autonomic dysfunction. Ophthalmological examinations detected thinning of the outer macula lutea in both eyes, indicative of macular dystrophy. After admission, all anti-psychotic drugs were ceased, but his dystonia was unchanged. Levodopa and trihexyphenidyl hydrochloride were not effective. General blood, urine and cerebrospinal fluid examinations showed no abnormalities. Brain MRI showed cerebellar atrophy and bilateral symmetrical thalamic lesions without brainstem atrophy or abnormal signals in the basal ganglia. I123-IMP SPECT also revealed a decreased blood flow in the cerebellum. Genetic screening, including whole exome sequencing conducted by the Initiative on Rare and Undiagnosed Disease identified no possible disease-causing variants. The patient's dystonia worsened and choreic movements manifested on his right hand and foot. We suspected dystonia with marked cerebellar atrophy (DYTCA), but could not exclude drug-induced dystonia. Macular dystrophy and bilateral thalamic lesions on brain MRI have not been previously described in DYTCA. Whether these features might be primarily associated with dystonia or cerebellar ataxia now remains to be determined.

Authors+Show Affiliations

Department of Neurology and Rheumatology, Shinshu University Hospital. Department of Neurology, Hokushin General Hospital.Department of Neurology, Hokushin General Hospital.Department of Neurology, Hokushin General Hospital.Department of Neurology, Hokushin General Hospital.Department of Brain Disease Research, Shinshu University School of Medicine.

Pub Type(s)

English Abstract
Journal Article

Language

jpn

PubMed ID

32641633

Citation

Hoshino, Yumi, et al. "[A Case Suspected of Dystonia With Marked Cerebellar Atrophy With Torsion Dystonia of the Neck and Cerebellar Ataxia That Developed During Pharmacologic Schizophrenia Treatment]." Rinsho Shinkeigaku = Clinical Neurology, 2020.
Hoshino Y, Yamazaki M, Mochizuki Y, et al. [A case suspected of dystonia with marked cerebellar atrophy with torsion dystonia of the neck and cerebellar ataxia that developed during pharmacologic schizophrenia treatment]. Rinsho Shinkeigaku. 2020.
Hoshino, Y., Yamazaki, M., Mochizuki, Y., Makishita, H., & Yoshida, K. (2020). [A case suspected of dystonia with marked cerebellar atrophy with torsion dystonia of the neck and cerebellar ataxia that developed during pharmacologic schizophrenia treatment]. Rinsho Shinkeigaku = Clinical Neurology. https://doi.org/10.5692/clinicalneurol.60.cn-001395
Hoshino Y, et al. [A Case Suspected of Dystonia With Marked Cerebellar Atrophy With Torsion Dystonia of the Neck and Cerebellar Ataxia That Developed During Pharmacologic Schizophrenia Treatment]. Rinsho Shinkeigaku. 2020 Jul 7; PubMed PMID: 32641633.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A case suspected of dystonia with marked cerebellar atrophy with torsion dystonia of the neck and cerebellar ataxia that developed during pharmacologic schizophrenia treatment]. AU - Hoshino,Yumi, AU - Yamazaki,Masashi, AU - Mochizuki,Yusuke, AU - Makishita,Hideo, AU - Yoshida,Kunihiro, Y1 - 2020/07/07/ PY - 2020/7/10/entrez KW - cerebellar atrophy KW - macular dystrophy KW - neck dystonia KW - thalamic lesion JF - Rinsho shinkeigaku = Clinical neurology JO - Rinsho Shinkeigaku N2 - A 46 year-old man with schizophrenia had taken several anti-psychotic drugs since 25 years of age. From ~35 years of age, he noticed occasional neck torsion to the left, and later an ataxic gait; both symptoms gradually worsened. On admission, the patient was taking olanzapine (5 mg/day) and biperiden hydrochloride (1 mg/day) because his schizophrenia was well controlled. His parents were not consanguineous, and there was no family history of neuropsychiatric diseases. On neurological examination, he showed mild cognitive impairment, saccadic eye pursuit with horizontal gaze nystagmus, mild dysarthria, dystonic posture and movement of the neck, incoordination of both hands, and an ataxic gait. Deep tendon reflexes were normal except for the patellar tendon reflex, which was exaggerated bilaterally. Pathological reflexes were negative and there was no sign of rigidity, sensory disturbance or autonomic dysfunction. Ophthalmological examinations detected thinning of the outer macula lutea in both eyes, indicative of macular dystrophy. After admission, all anti-psychotic drugs were ceased, but his dystonia was unchanged. Levodopa and trihexyphenidyl hydrochloride were not effective. General blood, urine and cerebrospinal fluid examinations showed no abnormalities. Brain MRI showed cerebellar atrophy and bilateral symmetrical thalamic lesions without brainstem atrophy or abnormal signals in the basal ganglia. I123-IMP SPECT also revealed a decreased blood flow in the cerebellum. Genetic screening, including whole exome sequencing conducted by the Initiative on Rare and Undiagnosed Disease identified no possible disease-causing variants. The patient's dystonia worsened and choreic movements manifested on his right hand and foot. We suspected dystonia with marked cerebellar atrophy (DYTCA), but could not exclude drug-induced dystonia. Macular dystrophy and bilateral thalamic lesions on brain MRI have not been previously described in DYTCA. Whether these features might be primarily associated with dystonia or cerebellar ataxia now remains to be determined. SN - 1882-0654 UR - https://www.unboundmedicine.com/medline/citation/32641633/[A_case_suspected_of_dystonia_with_marked_cerebellar_atrophy_with_torsion_dystonia_of_the_neck_and_cerebellar_ataxia_that_developed_during_pharmacologic_schizophrenia_treatment] L2 - https://dx.doi.org/10.5692/clinicalneurol.60.cn-001395 DB - PRIME DP - Unbound Medicine ER -
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