Autoimmune autonomic ganglionopathy (AAG) is an acquired immune-mediated disorder of widespread autonomic failure. Approximately half of the patients with AAG have the autoantibodies against the neuronal nicotinic acetylcholine receptor (AChR) in autonomic ganglia. These ganglionic AChR antibodies have the potential to mediate the synaptic transmission in sympathetic, parasympathetic, and enteric ganglia. Therefore, seropositive AAG patients exhibit various autonomic symptoms. Extra-autonomic manifestations (coexistence with brain involvement, sensory disturbance, endocrine disorders, autoimmune diseases and tumors) are present in many patients with AAG. The nicotinic AChRs comprise a family of abundantly expressed ligand-gated cation channels found throughout the central and peripheral nervous systems. Moreover, limited manifestations of autoimmune dysautonomia including autoimmune gastrointestinal dysmotility are newly recognized clinical entity. Although combined immunomodulatory therapy is beneficial for almost all patients with AAG, several case reports of some AAG patients with small benefit exist. This review focuses on the recent progress in the clinical approaches of AAG and its related disorders involving the role of autoantibodies and clinical practice.

We administered the Revised Neo Personality Inventory (NEO-PI-R) to 92 Japanese patients with focal dystonia and analyzed the relation of their personality traits, affected body parts, and occupations using a decision tree method. Results show that participants’ personality traits were related to their occupation rather than the body part. Occupational dystonia patients including musicians exhibited neurotic tendencies and a high level of anxiety. Moreover, patients with occupational upper limb dystonia had realistic thinking patterns. Patients with musicians’ dystonia were open about their emotional experiences: both positive and negative.

We studied whether ¹²³I-FP-CIT uptake in the striatum correlates with cognitive performance in patients with Parkinson’s disease (PD). Sixty-nine patients with PD (24 men and 45 women, average age = 71.3 years, disease duration = 5.2 years) underwent ¹²³I-FP-CIT SPECT and neuropsychiatric measurements. Cognitive performance was assessed using the MMSE (Mini-mental state examination), TMT (Trail making test), MoCA-J (Japanese version of Montreal cognitive assessment), FAB (Frontal assessment battery), ACE-R (Addenbrooke’s cognitive examination revised), BDI-II (Beck depression inventory-II), and RBMT (Rivermead behavioural memory test) in the ON state. The average specific binding ratio (SBR) and AI (Asymmetry index) of striatal ¹²³I-FP-CIT uptake were semi-quantitatively measured using DaTView software. Clinical data and SBR were compared. In addition, participants were divided into four groups according to the visibility of the striatum on ¹²³I-FP-CIT SPECT images, and results of the Eagle Wing (EW) group and the Egg shape (ES) group were compared. SBR was negatively correlated with age (P < 0.001), disease duration (P < 0.001), H-Y stage (P < 0.001), levodopa equivalent dose (P = 0.004), TMT-A (P = 0.001), and TMT-B (P < 0.001), and positively correlated with MMSE (P = 0.021) and FAB (P = 0.029), MoCA-J (P = 0.012)，RBMT (P = 0.021). Multiple regression analysis confirmed that age (P = 0.016) and FAB (P = 0.035) were independent predictors for SBR. Furthermore, in the ES group, Movement Disorder Society - Unified Parkinson’s disease rating scale part III scores were significantly higher (P = 0.013) and the AI was lower (P < 0.001) than those in the EW group. Conversely, there were no differences in the findings of neuropsychiatric measures between the two groups. Our study results demonstrate that imaging with ¹²³I-FP-CIT SPECT is sensitive for detecting dopaminergic deficits associated with frontal lobe functions in patients with PD.

A global, randomized, double-blind placebo-controlled study was conducted to confirm that BYM338 (bimagrumab), an anti-activin type II receptor antibody, improves motor function in patients with sporadic inclusion body myositis after 52 weeks’ treatment consisting of intravenous administration every 4 weeks at doses of 10, 3, and 1 mg/kg. In a Japanese sub-population (20 patients in total, 5 per dose group), no significant differences in the change from baseline of the 6-minute walking distance at Week 52 (primary endpoint) were observed between the placebo group and each BYM338 dose group. Furthermore, the lean body mass as an indicator of skeletal muscle mass increased in all BYM338 groups compared with the placebo group and the effects were dose-dependent. Overall, the Japanese sub-population showed similar trends as observed in the entire population (251 patients in total).

An 86-year-old woman was admitted to our hospital with headache and acute detarioration of consciousness. Cerebral microbleeds (CMBs) dominated the occipital lobe on the head MRI, revealing white matter lesions. It was accompanied by gadolinium (Gd) imaging effect in the leptomeninges and some CMBs. She was clinically diagnosed with amyloid β-related vasculitis and a good outcome was obtained with steroid therapy. Even when symptoms re-exacerbated, exacerbation of the contrast effect of CMBs was observed, but no white matter lesions appeared, and leptomeningeal enhancement did not change remarkably throughout the entire course.

A 66-year-old female developed chronic inflammatory demyelinating polyneuropathy (CIDP) one year after the diagnosis of aplastic anemia. High-dose intravenous immunoglobulin (IVIg) therapy, followed by IVIg maintenance therapy, rapidly improved her weakness and hyperesthesia in four extremities. In addition, pancytopenia caused by aplastic anemia also improved following IVIg treatment in parallel. This is the first report to show the co-existence of CIDP and aplastic anemia, and a common pathomechanism may be present in these two rare autoimmune disorders.

A 67-year-old man developed weakness and atrophy of the anterior compartment of the lower leg at age 53 years, followed by weakness of proximal muscles of the upper limb. His father had difficulties in walking in his thirties and died of heart disease at age 45 years. He also had mild respiratory weakness without cardiac involvement. Muscle histology showed spheroid or cytoplasmic bodies-like inclusions with moth-eaten appearance and irregular intramyofibrillar network. Electron microscopy revealed abnormally thickened and disorganized Z lines (Z line streaming) between the surrounding myofibrils and electron-dense globular deposits. These pathological findings apparently suggested myofibrillar myopathy. However, genetic analysis revealed a mutation (c.5566G>A, p.E1856K) in MYH7 gene, that is responsible for Laing-type distal myopathy (LDM). This mutation was previously reported in a study from Austria. This is the first report of LDM in the Japanese population .

A 32-year-old woman experienced several episodes of transient numbness on the left side of her face and body. MR angiography revealed severe stenosis in the right middle cerebral artery (MCA). Abnormal collateral vessel networks were not observed, and idiopathic MCA stenosis was diagnosed. She underwent superficial temporal artery (STA)-MCA anastomosis of the right hemisphere. The surgery eliminated the transient ischemic attacks; however, she developed hemiballism in the left side of her face and left upper limb 2 weeks after the surgery. The ballism disappeared 1.5 years after onset without any treatments. A few patients with development of chorea after STA-MCA anastomosis has been reported in moyamoya disease, but not in those with MCA stenoses. It has been previsouly reported that the development of an involuntary movement might be associated with hypermetabolism in the contra lateral striatum after STA-MCA anastomosis. We considered that a similar mechanism may have caused hemiallism in our patient. We need to recognize that STA-MCA anastomosis could cause hemichorea or hemiballism.

We report a case of acyclovir encephalopathy in a 77-year-old man who was introduced to peritoneal dialysis three years earlier. He developed herpes zoster and was treated with acyclovir (ACV) at 800 mg daily per oral. Two days later, he developed consciousness disturbance, hallucinations and asterixis. Acyclovir was stopped and continuous ambulatory peritoneal dialysis (CAPD) was switched to hemodialysis, which resulted in the resolution of his symptoms. Because the optimal dose of ACV varies among individuals depending on the bioavailability of ACV and metabolic enzyme activity, ACV encephalopathy can occur even when the acyclovir dose is modified according to the renal function of the affected patient. Because CAPD provides a poorer ACV clearance than hemodialysis, CAPD patients tend to have a higher risk of developing ACV encephalopathy and to recover more slowly. If CAPD patients develop ACV encephalopathy, a temporary change in the type of dialysis to hemodialysis should be considered.