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Shiro Horisawa, Takashi Arai, Naoki Suzuki, Takakazu Kawamata and Takaomi Taira

Cerebellar neuromodulation could influence the pathological abnormalities of movement disorders through several connections between the cerebellum and the basal ganglia or other cortices. In the present report, the authors demonstrate the effects of cerebellar deep brain stimulation (DBS) on a patient with severe generalized fixed dystonia (FD) that was refractory to bilateral pallidotomy and intrathecal baclofen therapy. A previously healthy 16-year-old girl presented with generalized FD. Bilateral pallidotomy and intrathecal baclofen therapy had failed to resolve her condition, following which she received DBS through the bilateral superior cerebellar peduncle (SCP) and dentate nucleus (DN). Ipsilateral stimulation of the SCP or DN improved the FD, and the ability of DBS administered via the SCP to relax muscles was better than that of DN DBS. A considerable improvement of generalized FD, from a bedridden state to a wheelchair-bound state, was observed in the patient following 6 months of chronic bilateral DBS via the SCP; moreover, the patient was able to move her arms and legs. The findings in the present case suggest that neuromodulation of deep cerebellar structures is a promising treatment for FD that is refractory to conventional treatments.

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Shiro Horisawa, Mieko Oka, Kotaro Kohara, Takakazu Kawamata and Takaomi Taira

Camptocormia is a rare, involuntary movement disorder, presenting as truncal flexion while standing or walking, and is mainly observed as a feature of Parkinson’s disease (PD) and primary dystonia. Deep brain stimulation (DBS) of the globus pallidus internus is effective for refractory camptocormia observed with PD or dystonia. However, the effectiveness of pallidotomy for camptocormia has not been investigated. The authors report the case of a 38-year-old man with anterior truncal bending that developed when he was 36 years old. Prior to the onset of the symptom, he had been taking antipsychotic drugs for schizophrenia. There were no features of PD; the symptom severely interfered with his walking and daily life. He was given anticholinergics, clonazepam, and botulinum toxin injections, which did not result in much success. Because of the patient’s unwillingness to undergo implantation of a hardware device, he underwent staged bilateral pallidotomy with complete resolution for a diagnosis of tardive dystonic camptocormia. The Burke-Fahn-Marsden dystonia rating scale subscore for the trunk before and after bilateral pallidotomy was 3 and 0, respectively. No perioperative adverse events were observed. Effects have persisted for 18 months. Bilateral pallidotomy can be a treatment option for medically refractory dystonic camptocormia without the need for device implantation.

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Shiro Horisawa, Taku Ochiai, Shinichi Goto, Takeshi Nakajima, Nobuhiko Takeda, Takakazu Kawamata and Takaomi Taira

OBJECTIVE

Meige syndrome is characterized by blepharospasm and varied subphenotypes of craniocervical dystonia. Current literature on pallidal surgery for Meige syndrome is limited to case reports and a few small-scale studies. The authors investigated the clinical outcomes of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in patients with Meige syndrome.

METHODS

Sixteen patients who underwent GPi DBS at the Tokyo Women’s Medical University Hospital between 2002 and 2015 were included in this study. Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) movement subscale (BFMDRS-M) scores (range 0–120) obtained at the following 3 time points were included in this analysis: before surgery, 3 months after surgery, and at the most recent follow-up evaluation.

RESULTS

The patients’ mean age (± SD) at symptom onset was 46.7 ± 10.1 years, and the mean disease duration at the time of the authors’ initial evaluation was 5.9 ± 4.1 years. In 12 patients, the initial symptom was blepharospasm, and the other 4 patients presented with cervical dystonia. The mean postoperative follow-up period was 66.6 ± 40.7 months (range 13–150 months). The mean total BFMDRS-M scores at the 3 time points were 16.3 ± 5.5, 5.5 ± 5.6 (66.3% improvement, p < 0.001), and 6.7 ± 7.3 (58.9% improvement, p < 0.001).

CONCLUSIONS

The results indicate long-term efficacy for GPi DBS for the majority of patients with Meige syndrome.

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Shiro Horisawa, Toshio Yamaguchi, Keiichi Abe, Hiroki Hori, Masatake Sumi, Yoshiyuki Konishi and Takaomi Taira

Musician’s dystonia (MD) is a type of focal hand dystonia that develops only while playing musical instruments and interferes with skilled and fine movements. Lesioning of the ventro-oral (Vo) nucleus of the thalamus (Vo-thalamotomy) using radiofrequency can cause dramatic improvement in MD symptoms. Focused ultrasound (FUS) can make intracranial focal lesions without an incision. The authors used MRI-guided FUS (MRgFUS) to create a lesion on the Vo nucleus to treat a patient with MD. Tubiana’s MD scale (TMDS) was used to evaluate the condition of musical play ranging from 1 to 5 (1: worst, 5: best). The patient was a 35-year-old right-handed man with involuntary flexion of the right second, third, and fourth fingers, which occurred while playing a classical guitar. Immediately after therapeutic sonications of FUS Vo-thalamotomy, there was dramatic improvement in the MD symptoms. The TMDS scores before; at 0 and 1 week after; and at 1, 3, 6, and 12 months after MRgFUS Vo-thalamotomy were 1, 4, 4, 5, 5, 5, and 5, respectively. No complications were observed. Focused ultrasound Vo-thalamotomy can be an effective treatment for MD.