Unilateral Vocal Cord Paralysis in a Patient with Anti-Galactocerebroside Antibodies: A Case Report.

Anti-galactocerebroside (Gal-C) antibodies are present in patients with conditions such as Guillain-Barré syndrome and mycoplasma pneumonia. We report a rare case of left vocal cord paralysis in a patient with anti-Gal-C IgG antibodies that improved after administeration of antivirals and steroids.

A preliminary study on the effects of long-term robot suit exercise training on gait function and quality of life in patients with spinal and bulbar muscular atrophy.

Spinal and bulbar muscular atrophy (SBMA) progressively impairs gait function, resulting in the need for patients to use a wheelchair approximately 20 years after onset. No reports have investigated the effects of long-term exercise training using the Hybrid Assisted Limb (HAL) in patients with multiple SBMA. This study investigated the effects of long-term exercise training using HAL in patients with SBMA and its effects on the quality of life (QoL). Six courses of HAL treatment were administered to three males with SBMA, and leuprorelin was administered to each patient. Each course had a 4-5 week duration, during which the treatment was performed nine times, with a rest period of at least 2 months between each course. A 2-minute walk test (2MWT) and a 10-m walk test (10MWT) were performed to measure gait ability, and a blood test to measure the serum creatine kinase (CK) and creatinine (CRE) levels was performed before and after each course of treatment. We evaluated QoL using the Medical Outcomes Study 36-Item Short Form Health Survey (SF-36). The average 2MWT distance improved over 2 years (p = 0.038), and the 10MWT showed neither improvement nor decline. No increase or decrease in serum CK or CRE levels was observed. There were no significant changes in the SF-36 physical, mental, or social summary scores. In combination with leuprorelin therapy, robot-assisted training using HAL maintained gait ability and QoL in patients with SBMA for 2 years.

Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale.

BACKGROUND: Primary lateral sclerosis (PLS) is an extremely rare condition; therefore, to date no clinical studies have been conducted. The Primary Lateral Sclerosis Functional Rating Scale (PLSFRS) was developed in the United States of America. The PLSFRS is a crucial assessment scale for international collaborative research and future clinical trials for PLS. It is useful for evaluating medical conditions through face-to-face assessments and telephone interviews such as when a face-to-face assessment is not possible due to disasters or the burden of hospital visits. This study assessed the reliability and consistency of in-person and telephone interviews using the Japanese version of the PLSFRS. METHODS: We enrolled 19 Japanese patients who met the specific criteria for inclusion at the six collaborating institutions. The PLSFRS assessments were performed by two evaluators at defined time points and analyzed for intra-rater and inter-rater reliability and consistency between the in-person and telephone interviews. RESULTS: The Japanese version of the PLSFRS was developed by a specialized company and translator, and modified to consider the Japanese lifestyle through a consensus among motor neuron specialists. The quadratic-weighted kappa coefficients for the intra-rater and the inter-rater agreement were substantial (intra-rater: 0.691-1.000, inter-rater: 0.634-1.000). Moreover, the intraclass correlation coefficient for the PLSFRS total score was 0.997 (95% confidence interval, 0.992-0.999). CONCLUSIONS: This study provides results regarding the Japanese version of the PLSFRS intra-rater and inter-rater reliability and consistency between in-person and telephone interviews.

Isolated prosopagnosia caused by damage to the right inferior longitudinal fasciculus: a case report.

Prosopagnosia is a cognitive disorder in which facial recognition is severely impaired despite normal vision and intelligence. Prosopagnosia was first reported in the 1800s, but its cause remains unclear. Although other neurological symptoms are often present, some patients have pure prosopagnosia. The bilateral occipital lobes are believed to be associated with symptoms. Recent brain imaging techniques have identified the right fusiform gyrus (rFG), located at the junction of the right occipital temporal lobe, as the affected region. In this report, we present a case of associative prosopagnosia with no concomitant symptoms in a 76-year-old man. Brain magnetic resonance imaging detected a subcortical hemorrhage in the right temporal lobe. Using tractography based on diffusion tensor imaging, we visualized atrophy of the right inferior longitudinal fasciculus (ILF). This is the first time tractography has been used to show a clear association between associative prosopagnosia and ILF damage projecting from the rFG.

Emergency Revascularization for Acute Vertebral Artery Occlusion Accompanied by Systemic Lupus Erythematosus: A Case Report.

The efficacy of mechanical thrombectomy (MT) for acute ischemic stroke has been established, but there are few reports on the effectiveness of MT for stroke patients with collagen disease. We report the case of a systemic lupus erythematosus (SLE) patient with cerebral infarction who underwent MT. A 48-year-old woman had been diagnosed with SLE for 30 years. She visited our hospital because of dizziness from the day before, but when she arrived at the hospital parking lot, she developed vomiting and impaired consciousness. An MRI revealed increased cerebellar hemisphere infarction and magnetic resonance angiography (MRA) did not visualize the right vertebral artery or basilar artery. Urgent cerebral angiography was performed, and angiography of the right vertebral artery revealed occlusion of the V4 segment of the vertebral artery. In addition to these angiographic findings, the patient also had impaired consciousness and was judged to be in need of emergency revascularization treatment. We performed an MT using a stent retriever. Immediately after the angiography examination, reperfusion to the basilar artery and severe stenosis of the right vertebral artery were noted. Therefore, percutaneous transluminal angioplasty (PTA) and stent placement for vertebral artery stenosis were done. This procedure successfully maintained the patency of the vertebral artery and blood flow to the basilar artery. Her consciousness improved; she only had mild nausea and no remarkable neurological findings.

Emergency Mechanical Thrombectomy for Acute Middle Cerebral Artery Occlusion Accompanied by Adult-Onset Still's Disease.

Adult-onset Still's disease (AOSD) is a rare systemic inflammatory condition of an unknown etiology. Stroke is a rare complication associated with AOSD; most of these are cerebral infarctions due to the occlusion of small blood vessels. Here, we report the first case of mechanical thrombectomy in a patient with cerebral infarction due to a large vessel occlusion associated with AOSD. A 60-year-old man with no underlying disease was diagnosed with AOSD. Sixteen days after admission, he suddenly lost consciousness and was found to have right hemiplegia and aphasia. Head CT showed early signs of ischemic infarction in the left insular cortex, and head CT angiography demonstrated occlusion in a part of the left middle cerebral artery (MCA). Therefore, we decided that mechanical thrombectomy was an indication of revascularization. We performed mechanical thrombectomy using a Trevo NXT 4 × 28 mm (Stryker, Kalamazoo, USA) and obtained reperfusion of the MCA. The results of the cerebral angiography were indicative of an embolic cerebral infarction, and we investigated the source of the embolism including an insertable cardiac monitor (ICM) (Reveal LINQ, Medtronic, Minneapolis, USA). However, no disease other than AOSD that could be a source of embolism was observed. Therefore, AOSD was assumed to be associated with embolisms. AOSD may cause embolic cerebral infarction and may be indicated for mechanical thrombectomy.

Clinical characteristics of patients with Parkinson's disease with reduced 123I-metaiodobenzylguanidine uptake in the major salivary glands and heart.

BACKGROUND: Parkinson's disease (PD) shows cardiac sympathetic denervation (SD) in 123I-metaiodobezylguanidine (MIBG) scintigraphy. Recently, SD in the major salivary glands (MSG-SD) was introduced as a possible radiological feature of PD. OBJECTIVE: To identify the clinical characteristics of patients with PD with reduced MSG and cardiac MIBG uptake (dual-SD) compared with those with reduced MSG or cardiac MIBG uptake only (single-SD). METHODS: We recruited 90 patients with PD and 30 controls and evaluated their non-motor (e.g., hyposmia, autonomic dysfunction) and motor (e.g., Movement Disorder Society-Unified Parkinson's Disease Rating Scale) features. We also assessed MIBG uptake in the MSG and heart using a quantitative semi-automatic method, and compared MIBG uptakes between PD and controls. We set cut-off values for optimal sensitivity and specificity, and compared the clinical characteristics of patients with PD between dual- and single-SD groups. RESULTS: MSG and cardiac MIBG uptakes were significantly reduced in PD. Sixty-one patients had dual-SD, 25 had single-SD, and four had non-SD. In patients with PD with normal cardiac SD, 76.5% (13/17) of whom showed abnormalities only in MSG-SD. When clinical characteristics were compared between the dual-SD and single-/non-SD groups, patients in the dual-SD group were older and had more severe hyposmia and autonomic dysfunction, except motor features. Multiple logistic regression analysis identified age as an important confounder. CONCLUSIONS: Patients with PD with dual-SD have more severe non-motor features than other patients. Autonomic dysfunction might progress independently from dopaminergic degeneration. Furthermore, our findings indicate that aging is a crucial factor in PD progression.

Association between middle cerebral artery morphology and branch atheromatous disease.

INTRODUCTION: Branch atheromatous disease (BAD) is a type of cerebral infarction caused by stenosis or occlusion at the entrance of the penetrating branch due to the presence of plaque. Despite its clinical significance, it is not clear how these plaques are formed. Focal geometrical characteristics are expected to be as important as vascular risk factors in the development of atherosclerosis. This study aimed to analyze the association between middle cerebral artery (MCA) geometric features and the onset of BAD. Shear stress results from the blood flow exerting force on the inner wall of the vessels and places with low wall shear stress may be prone to atherosclerosis. At the curvature of blood vessels, the shear stress is weak on the inside of the curve and plaque is likely to form. When this is applied to the MCA M1 segment, downward type M1 is likely to form plaques on the superior side. Because the lenticulostriate artery usually branches off from the superior side of the MCA M1 segment, in downward type M1, a plaque is likely to be formed at the entrance of the penetrating branch, and for that reason, BAD is likely to onset. METHODS: We retrospectively reviewed hospitalized stroke patients with BAD and investigated the morphology of their MCA using magnetic resonance imaging. The M1 segment was classified as straight or curved. Additionally, we compared the difference between the symptomatic and the asymptomatic side. Data regarding patients' medical history were also collected. RESULTS: A total of 56 patients with lenticulostriate artery infarctions and BAD were analyzed. On the symptomatic side, downward type M1 accounted for the largest proportion at 44%, whereas on the asymptomatic side, it was the lowest, at 16%. CONCLUSION: A downward type MCA may be associated with the onset of BAD and the morphological characteristics might affect the site of plaque formation. J. Med. Invest. 70 : 411-414, August, 2023.

Reduced 123I-MIBG uptake in the parotid and submandibular glands in patients with Parkinson's disease identified using a quantitative semi-automatic method.

OBJECTIVES: To analyze 123I-metaiodobenzylguanidine (MIBG) uptake in the parotid and submandibular glands in patients with Parkinson's disease (PD) in comparison with controls, and to compare MIBG uptake between those glands and the myocardium. Furthermore, we aimed to identify the relationships between clinical features and MIBG uptake. METHODS: We recruited 77 patients with PD and 21 age-matched controls. We assessed MIBG scintigraphy in the major salivary glands and myocardium. We calculated the MIBG uptake ratio in the parotid glands/mediastinum (P/M), submandibular glands/mediastinum (S/M), and heart/mediastinum (H/M) using a quantitative semi-automatic method. We investigated the correlations between MIBG uptake and clinical features. RESULTS: The P/M and H/M ratios in the early and delayed phases were significantly reduced in PD patients compared to controls, while the delayed phase S/M ratio was reduced in PD patients compared to controls. The P/M ratio correlated with the S/M ratio, while neither the P/M nor S/M ratio correlated with the H/M ratio. Between PD patients and controls, sensitivity and specificity were 54.8% and 59.1% for the delayed phase P/M ratio, while sensitivity and specificity were 59.5% and 61.0% for the delayed phase S/M ratio, respectively. Furthermore, sensitivity and specificity for the delayed phase H/M ratio were 85.7% and 79.2, respectively. CONCLUSION: MIBG uptake in the parotid and submandibular glands was reduced in patients with PD. Furthermore, sympathetic denervation in the major salivary glands and myocardium might progress independently. Our findings suggest a new aspect of the pathological distribution of PD.

Investigation of non-motor symptoms in patients with amyotrophic lateral sclerosis.

[Objective] Few studies have comprehensively investigated the non-motor symptoms of amyotrophic lateral sclerosis (ALS). We aimed to investigate this aspect of ALS. [Methods] We held a nationwide webinar, titled "ALS Café," and distributed self-report questionnaires to ALS patients. In addition to the frequency of non-motor symptoms such as fatigue, pain, sleep disorders, defecation disorders, sialorrhea, and sexual problems, we evaluated the quality of life (QoL), ALS Functional Rating Scale-Revised (ALSFRS-R), and Patient Health Questionnaire-9 (PHQ-9). [Results] The average age of the 33 respondents (19 male, 14 female) was 60.8 ± 11.2; 96.7% of respondents had some non-motor symptoms. The median ALSFRS-R was 32.0, and seven (21.2%) of the respondents had a PHQ-9 score of 10 or higher. Fatigue was the most common non-motor symptom (81.8%), followed by pain (60.6%), defecation disorders (57.6%), sleep disorders (48.5%), sialorrhea (48.5%), and sexual problems (24.2%). Fatigue was more frequent in females (P = 0.03). Among the non-motor symptoms, pain was the most common factor affecting QoL, followed by fatigue. More than 90% of ALS patients answered that they had never consulted a physician/counselor about sexual problems. Patients with pain had higher PHQ-9 scores than those without (P = 0.01). There was no correlation between the ALSFRS-R score and QoL and PHQ-9. [Conclusions] Most patients with amyotrophic lateral sclerosis had non-motor symptoms, and fatigue and pain were the most common. We showed that many non-motor symptoms affected QoL without correlating with ALSFRS-R score. Attention should be paid to those even if the motor symptoms of ALS are mild.

Effects of Long-term Hybrid Assistive Limb Use on Gait in Patients with Amyotrophic Lateral Sclerosis.

Objective To assess the long-term effects of hybrid assistive limb (HAL) treatment on gait in patients with amyotrophic lateral sclerosis (ALS). Methods Three courses of treatment with HAL were administered to three women with ALS. Each course had a four- to five-week duration, during which the treatment was performed nine times, with a rest period of at least two months between each course. Gait ability (2-minutes-walk and 10-m-walk tests), ALS Functional Rating Scale-Revised, and respiratory function tests were performed before and after each treatment course. Patients Patients diagnosed with ALS, according to the updated Awaji criteria, by board-certified neurologists in the Department of Neurology and Department of Rehabilitation Medicine, Toho University Omori Faculty of Medicine between January and December 2019 were recruited. Results The average time from the start to the end of the 3 courses was 319.7±33.7 days. A multiple regression analysis was performed for the 2-minutes-walk and 10-m-walk tests, using the baseline value, each participant's ID, and time point as covariates. Changes after each course were considered outcomes. Following the 3 treatment courses, the 2-minutes walk distance improved by 16.61 m (95% confidence interval, -9.33-42.54) compared with the baseline value, but this improvement was not statistically significant (p=0.21). However, cadence significantly improved by 1.30 steps (95% confidence interval, 0.17-2.42; p=0.02). Conclusion Long-term, repetitive HAL treatments may help patients with ALS maintain their gait.

Robot-assisted training using hybrid assistive limb ameliorates gait ability in patients with amyotrophic lateral sclerosis.

OBJECTIVE: The Hybrid Assistive Limb (HAL; CYBERDYNE, Inc., Japan) is a wearable robot device that provides effective gait assistance according to voluntary intention by detecting weak bioelectrical signals of neuromuscular activity on the surface of the skin. We used HAL for patients with amyotrophic lateral sclerosis (ALS) to determine whether HAL training had an effect on their gait ability. METHODS: We conducted a single-center, single-arm, observational study. Patients with ALS underwent HAL training once per day (20-40 min per session) for 9-10 days for at least 4 weeks. Gait ability was evaluated using the 2-minute walk test, the 10-meter walk test without the assistance of HAL, and activities of daily living (ADL) using the Barthel Index and Functional Independence Measures before and after a full course of HAL training. RESULTS: There were no dropouts or adverse events during the observation period. Gait function improved after HAL training. The 2-minute walk test revealed a mean gait distance of 73.87 m (36.65) at baseline and 89.9m (36.70) after HAL training (p = 0.004). The 10-meter walk test showed significantly improved cadence, although gait speed, step length on the 10-m walk, or ADL measurements did not change significantly. CONCLUSIONS: Although HAL is not a curative treatment for ALS, our data suggest that HAL may be effective in ameliorating and preserving gait ability in patients with ALS.

Contradictory Responses to the COVID-19 Pandemic in Amyotrophic Lateral Sclerosis Patients and Their Families and Caregivers in Japan.

Objective The coronavirus disease 2019 (COVID-19) pandemic has resulted in a shortage of medical resources, including ventilators, personal protective equipment, medical staff, and hospital beds. We investigated the impact of COVID-19 in amyotrophic lateral sclerosis (ALS) patients, their families, caregivers, and medical experts. Methods We conducted a nationwide ALS webinar about COVID-19 in May 2020 and sent a questionnaire to those enrolled. Results A total of 135 participants (31 ALS patients; 23 families and caregivers of ALS patients; 81 medical experts) responded to this cross-sectional self-report questionnaire. The results showed that tracheostomy and invasive ventilation (TIV) was used in 22.6% of ALS patients, whereas 77.4% of ALS patients were not under TIV. Among non-TIV patients (n=24), 79.2% did not want TIV in the future. However, 47.4% of non-TIV patients not wanting a tracheostomy in advanced stages replied that they would want an emergency tracheostomy if they developed COVID-19-related pneumonia. These results suggest that ALS patients may be receptive to emergency treatments for reasons other than ALS. In addition, approximately half of the ALS patients agreed with the policy of not ventilating the elderly or ALS patients in case of a ventilator shortage. Furthermore, compared with medical experts, few ALS patients reported that the chance for ALS patients to obtain work was higher due to the increasing availability of remote work. Conclusions This survey indicates that the COVID-19 pandemic might be associated with increased distress about access to care and work, inducing contradictory responses and potential hopelessness among ALS patients.

Coronary spastic angina after the administration of intravenous immunoglobulin in myasthenia gravis: a case report.

BACKGROUND: Myasthenia gravis (MG) is an autoimmune disease caused by antibodies that block or destroy nicotinic acetylcholine receptors at the neuromuscular junction. Most of MG patients need immunosuppression agents in addition to treatments that alleviate the symptoms. Intravenous immunoglobulin (IVIg) and plasma exchange are specific treatments given to patients with severe MG and myasthenia gravis crisis. IVIg therapy can cause an increase in serum viscosity; therefore, the risk for thromboembolic events, such as stroke, myocardial infarction, and pulmonary embolism, are reported after IVIg therapy. CASE PRESENTATION: An MG patient was treated with pyridostigmine bromide and prednisolone. The patient's symptoms worsened 26 days after the commencement of treatment and was presented with head drop and dyspnea. The patient was diagnosed with MG crisis and IVIg was initiated. However, the patient reported chest pain and dyspnea 3 days after IVIg had started. An electrocardiogram (ECG) revealed ST elevations in leads II, III, and aVF. A cardiac catheterization was performed and stenosis, obstruction, and sclerosis were ruled out. Glyceryl trinitrate relieved the patient's symptoms, suggesting coronary spastic angina (CSA). CONCLUSIONS: We report the first case of CSA after IVIg. Practitioners should be aware of the potential risks of CSA when administering IVIg for MG patients, in particular in old patients with vascular risk factors.

Zonisamide cotreatment delays striatal dopamine transporter reduction in Parkinson disease: A retrospective, observational cohort study.

This study examined whether zonisamide (ZNS) cotreatment delays dopamine transporter (DAT) reduction on SPECT in Parkinson disease (PD) patients. The study participants met the following criteria: (i) age ≥ 40 years; (ii) HY stage = 2 or 3; (iii) average specific binding ratio (SBR) ≥2.00; (iv) levodopa administration without a prior history of ZNS use before the first DAT-SPECT (baseline). Attending physicians initially determined whether ZNS (25 mg/day) should be used or not. Levodopa and other anti-PD medications were not restricted. The second DAT-SPECT (endpoint) was conducted 1.2 ±â€¯0.2 years after the first DAT-SPECT. Clinicoradiological changes of HY stage, UPDRS parts II to IV, dyskinesia subscore, and SBR were calculated. Statistical differences were analyzed by Student's t-test, ANOVA, or multilogistic analysis. ZNS cotreatment improved wearing off and prevented the development of dyskinesia without additional administration of selegiline, entacapone, and dopamine receptor agonists. The endpoint SBR reduced significantly in the non-ZNS group compared to the baseline (P < .01). The SBR decline rate reduced significantly in the ZNS group (P < .01). ZNS was an independent preventive factor for SBR reduction. These results suggested a beneficial potential that ZNS preserves striatal presynaptic DAT expression and slows disease progression in early-stage PD.

Preventive Treatment with Lomerizine Increases Cerebral Blood Flows during the Interictal Phase of Migraine.

BACKGROUND: Changes in regional cerebral blood flow (rCBF) were reported in migraineurs. However, little is known how preventive medications of migraine can influence rCBF. Lomerizine, a calcium channel blocker, has been used for migraine prophylaxis in Japan. We examined rCBF after lomerizine treatment. SUBJECTS AND METHODS: Migraine was diagnosed according to the criteria of the International Classification of Headache Disorders, Third Edition beta. Migraine subtype was classified into migraine with aura (MA) and migraine without aura (MO). Lomerizine (10 mg/day, per oral) was administered for 3 months. Headache Impact Test-6 (HIT-6) and blood pressure (BP) were compared at baseline and end point. Brain single photon emission computed tomography using 99mTc-ethyl cysteinate dimer was performed at the interictal period. Brain SPECT data were analyzed according to revised version of 3-dimensional stereotaxic region of interest template. Clinic-radiological variables were analyzed by paired Student's t test. RESULTS: Ten migraineurs (4 men and 6 women) participated in the present study. Mean age was 54.1 (standard deviation [SD] 10.1) years. Mean duration of migraine was 25.3 (SD 9.8) years. Migraine subtype showed 4 MA and 6 MO patients. Mean score of HIT-6 was 66.3 (SD 11.7). Lomerizine treatment decreased HIT-6 scores significantly (P < .01). BP did not differ significantly after lomerizine treatment. Lomerizine treatment increased rCBF 20% approximately in the frontal, the parietal, the temporal, and the occipital region. CONCLUSIONS: The present study indicated a significant increase in interictal rCBF after lomerizine treatment in migraineurs. The upregulation of rCBF could contribute to the antimigraine mechanism of lomerizine.

Treatment with telmisartan, a long-acting angiotensin II receptor blocker, prevents migraine attacks in Japanese non-responders to lomerizine.

Lomerizine, calcium channel blocker, is the most used medication for migraine prophylaxis in Japan. The effectiveness of this drug is reported as 50-75%. Telmisartan is angiotensin II receptor blockers which plasma half-life is 24 h. We examined whether telmisartan has preventative benefits in lomerizine non-responsive migraineurs. Lomerizine non-responders received telmisartan (20 mg/day) for 3 months after the investigation period of 3 months. Blood pressure, frequency of headache days/month, headache severity, and doses of triptans and analgesics were analyzed by Wilcoxon signed rank test. Thirty-three migraineurs (25 women and 8 men) participated in this study. Seven patients had migraine with aura and 26 patients had migraine without aura. Mean age (SD) was 46.6 (10.3) years. Mean duration (SD) of migraine was 20.4 (12.5) years. Headache severity exhibited mild degree in 5 patients, moderate degree in 9 patients and severe degree in 19 patients. Mean frequency (SD) of headache days was 10.9 (8.5) days/month. Mean usage (SD) of triptans was 4.8 (5.1) tablets/month and that of analgesics was 15.2 (22.2) tablets/month. Five patients (15%) had hypertension. Telmisartan administration had benefits in 30 patients (90%). This medication significantly decreased frequency of headache days (P < 0.01) and headache severity (P < 0.01). Doses of triptans were reduced at one-third (P < 0.05) and those of analgesia at one-fifth after telmisartan treatment (P < 0.01). After telmisartan, mean (SD) of systolic blood pressure was significantly decreased (P < 0.05). The present study supported that telmisartan treatment had preventive effects in 90% of lomerizine non-responders. Telmisartan non-responders (10%) exhibited chronic migraine and long migraine duration.

Clinical Profile and Changes of Serum Lipid Levels in Epileptic Patients after Cerebral Infarction.

BACKGROUND: Antiepileptic drugs (AEDs) may increase development of dyslipidemia and cerebrovascular disease (CVD). We examined the clinical profile and changes of serum lipid levels after AED monotherapy in patients with poststroke epilepsy (PSE) after cerebral infarction (CI). SUBJECTS AND METHODS: Medical records were reviewed in consecutive 2144 CI patients. Monotherapy of valproate, carbamazepine (CBZ), phenytoin (PHT), zonisamide, levetiracetam, or lamotrigine was performed in PSE patients. Serum lipid levels were measured before and at 3 months after AED treatment. RESULTS: The prevalence of PSE was 7.0% in CI patients. The TOAST etiology disclosed large-artery atherosclerosis in 68 patients (45%), cardioembolism in 63 patients (42%), and undetermined cause in 19 patients (13%). CVD risk profile showed obesity of 18 patients (12%), current smoker of 30 patients (20%), hypertension of 75 patients (50%), diabetes mellitus of 32 patients (21%), dyslipidemia of 15 patients (10%), and atrial fibrillation of 63 patients (42%). CBZ or PHT administration increased serum total cholesterol (TC) and low-density lipoprotein-cholesterol (LDL-C) levels significantly compared to baseline and AED-untreated controls. Those levels were not increased significantly in other AED and control groups. Serum high-density lipoprotein-cholesterol and triglyceride levels did not differ statistically in all groups. CONCLUSIONS: The prevalence of post-CI epilepsy was 7.0%. The pathogenesis contributed to atherothrombosis and cardioembolism. CBZ or PHT administration increased serum TC and LDL-C significantly. Thus, we should pay more attention to serum lipid levels in patients receiving cytochrome P450 (CYP)-induced AEDs, and might considerer switching to non-CYP-induced AEDs in patients with unfavorable serum lipid changes.

Late-onset spinal form xanthomatosis without brain lesion: a case report.

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase (CYP27A1) gene. Patients with typical CTX show neurological dysfunction including bilateral cataracts, paresis, cerebral ataxia, dementia, and psychiatric disorders, and magnetic resonance imaging (MRI) has revealed symmetrical lesions in the cerebellar white matter. CASE PRESENTATION: We report the case of a patient with late-onset spinal form CTX without brain lesion. He showed pyramidal tract signs, and impaired joint position and vibration sensation in the lower limbs. Cervical sagittal MRI demonstrated a longitudinally extensive white matter abnormality in the dorsal column of the C2-C7 spinal cord; however, a brain MRI revealed an absence of lesions, including in the cerebellar white matter. Genetic analysis of CYP27A1 revealed that the patient was compound heterozygous for p.Gln85Arg in exon 1, a novel mutation, and p.Arg405Gln in exon 7, a previously reported mutation. CONCLUSION: This is the first report of late-onset spinal form CTX without typical neurological symptoms, and the first report of p.Gln85Arg in CYP27A1. We speculate that spinal form CTX without brain lesion is a clinically and radiologically rare variation of CTX. Therefore, spinal xanthomatosis should be included in the differential diagnosis of chronic myelopathy even with late-onset and/or no other typical neurological findings.

Donepezil-induced cervical dystonia in Alzheimer's disease: a case report and literature review of dystonia due to cholinesterase inhibitors.

We herein report an 81-year-old woman with Alzheimer's disease (AD) in who donepezil, a cholinesterase inhibitor (ChEI), caused cervical dystonia. The patient had a two-year history of progressive memory disturbance fulfilling the NINCDS-ADRDA criteria for probable AD. Mini-Mental State Examination score was 19/30. The remaining examination was normal. After a single administration of donepezil (5 mg/day) for 10 months, she complained of dropped head. Neurological examination and electrophysiological studies supported a diagnosis of cervical dystonia. Antecollis disappeared completely at 6 weeks after cessation of donepezil. Dystonic posture can occur at various timings of ChEI use. Physicians should pay more attention to rapidly progressive cervical dystonia in ChEI-treated AD patients.