Dentatorubropallidoluysian Atrophy with Prominent Autonomic Dysfunction.

We herein report a 45-year-old man with dentatorubropallidoluysian atrophy (DRPLA) who presented with mild dementia, ataxia, and involuntary movement and developed constipation, dysuria, and orthostatic hypotension. Thermography revealed an abnormal thermal response of the skin to cold stimulation. Skin temperature reflects the skin blood flow and is regulated by the sympathetic nervous system.

Myasthenia gravis that has developed long after radical resection of lung cancer: A case report.

Myasthenia gravis (MG) is the most common disorder of neuromuscular transmission and is a heterogeneous disorder generally caused by auto-antibody to the nicotinic acetylcholine receptor. The current study presented a rare case of MG that occurred a long time after surgical resection of lung cancer. A 58-year-old man with lung adenocarcinoma underwent upper lobectomy and mediastinal lymph node dissection.

Maintaining Weight and Nutritional Status with Ninjin'yoeito in Elderly Patients with Chronic Wasting Diseases.

Objectives: This retrospective study aimed to obtain information on the nutritional maintenance effects of Ninjin'yoeito (NYT) in elderly patients with chronic wasting diseases.

Methods: Changes in body weight and serum levels of total protein and albumin were investigated in patients who received NYT for chronic wasting diseases for more than six months in Mito Medical Centre, University of Tsukuba-Mito Kyodo General Hospital, Mito, Japan, from April 2009 to October 2019.

Results: During the study period, 11 patients (median age: 75 years) received NYT for six months or more.

Unique Lewy pathology in myotonic dystrophy type 1.

Lewy body-related α-synucleinopathy (Lewy pathology) has been reported in patients with myotonic dystrophy (DM) type 1 (DM1), but no detailed report has described the prevalence and extent of its occurrence. We studied consecutive full autopsy cases of DM1 at the National Center of Neurology and Psychiatry (NCNP) Brain Bank for intractable psychiatric and neurological disorders. Thirty-two cases, genetically determined to be DM1 (59.

Dural Sinus Thrombosis with Nonsymptomatic Persistent Falcine Sinus: A Case Report.

A 24-year-old woman was admitted to our hospital after convulsive status epilepticus. A cerebral magnetic resonance venography revealed a persistent fetal falcine sinus. Additionally, the posterior third of the superior sagittal sinus was hypoplastic and the abnormal deep venous drainage was accompanied.

Altered immunoreactivity of ErbB4, a causative gene product for ALS19, in the spinal cord of patients with sporadic ALS.

ErbB4 is the protein implicated in familial amyotrophic lateral sclerosis (ALS), designated as ALS19. ErbB4 is a receptor tyrosine kinase activated by its ligands, neuregulins (NRG), and plays an essential role in the function and viability of motor neurons. Mutations in the ALS19 gene lead to the reduced autophosphorylation capacity of the ErbB4 protein upon stimulation with NRG-1, suggesting that the disruption of the NRG-ErbB4 pathway causes motor neuron degeneration.

Meningeal carcinomatosis presenting with leukoencephalopathy-like imaging findings.

Meningeal carcinomatosis is a unique and rare form of metastasis observed in patients with malignant tumours. Diagnosis is simple when the primary lesion of the malignant tumour is clear, and when multiple miliary lesions are confirmed via cranial contrast MRI; however, many patients exhibit atypical imaging findings. In the present report, we discuss the case of a 72-year-old man who presented with subacute consciousness impairment and MRI findings suggestive of progressive, bilateral leukoencephalopathy-like lesions around the ventricles.

The Development of Cerebral Venous Thrombosis after Tadalafil Ingestion in a Patient with Antiphospholipid Syndrome.

We report a case of cerebral venous thrombosis related to the ingestion of tadalafil. A 45-year-old man presented with posterior headache and was diagnosed with tension headache. Five days later, he was transported to our hospital via ambulance due to a tonic-clonic seizure.

Decreased dopamine transporter and receptor ligand binding in Parkinsonism with diabetic uremic syndrome.

Here, we describe the case of a 47-year-old man with bilateral striatal lesions with diabetic uremia. Following 4 years of hemodialysis, the patient experienced sudden onset of rigidity, bradykinesia, gait disorder, and postural instability. Symptoms were remediated 2 months later, and were no longer responsive to levodopa approximately 1 year after the onset.

Lewy body pathology involves the olfactory cells in Parkinson's disease and related disorders.

Background: The "dual-hit" and propagation hypotheses of α-synuclein suggests that the olfactory cells of the olfactory epithelium are among the earliest sites of involvement in Parkinson's disease (PD). We investigated the olfactory epithelium in consecutive cases that had been registered with a brain bank.

Objectives: This study was undertaken to check the presence or absence of Lewy body pathology in olfactory cells.

A mild case of giant axonal neuropathy without central nervous system manifestation.

An 11-year-old boy presented with progressive walking disturbances. He exhibited severe equinovarus feet that together presented with hyperreflexia of the patellar tendon and extensor plantar, resembling spastic paraplegia or upper neuron disease. He showed mild distal muscle atrophy, as well.

Neurodegenerative changes in patients with clinical history of bipolar disorders.

Neurodegeneration in bipolar disorder (BPD) is poorly understood. Therefore, the current study was designed to assess the immunohistochemical changes in neurodegenerative markers in patients with BPD. Eleven consecutive autopsy cases diagnosed with BPD were analyzed.

Sixth nerve palsy associated with obstruction in Dorello's canal, accompanied by nodular type muscular sarcoidosis.

A 52-year-old Japanese woman complaining of horizontal double vision for 10 days was admitted to our hospital. Neurological examination revealed left abducent nerve palsy and muscle swelling in her thighs. Brain MRI showed obstruction in the spinal fluid space of the left Dorello's canal, which transmits a portion of the abducent nerve.

A Japanese case with Nasu-Hakola disease of DAP12 gene mutation exhibiting precuneus hypoperfusion.

A 38-year-old Japanese man with Nasu-Hakola disease (NHD) had repeated pathological fractures and frontal lobe symptoms which developed when he was 18 and 26 years old, respectively. Neuropsychological testing showed memory impairment, and in particular, visuo-spatial memory at the age of 35. Furthermore, single-photon emission computed tomography revealed precuneus hypoperfusion.

A case of vitiligo vulgaris showing a pronounced improvement after treatment for myasthenia gravis.

This is a report of a 64 year-old male patient whose myasthenia gravis (MG) was accompanied by vitiligo vulgaris. Depigmentation of the face, trunk, and hands was noted. He was diagnosed with vitiligo vulgaris according to macroscopic findings and a skin biopsy.