Pain is a representative non-motor symptom in patients with Parkinson’s disease (PD). Pain is one of the most common symptoms that plague patients with PD regardless of the stage of the disease, also it can exacerbate other symptoms, such as depression, anxiety or sleep disturbance, and lead to impaired quality of life. However, pain is often not adequately evaluated and treated. PD patients complain of a wide variety of pain, including both PD-related pain which caused by PD-specific symptoms, for example, rigidity, bradykinesia or motor fluctuation, and PD-unrelated pain, and it can be divided into central and peripheral depending on the site of the disorder. In the medical care of the pain, it is important to evaluate the type and severity of the pain using PD-specific assessment scales such as King’s PD pain scale and to consider the evidence-based treatment methods according to the pathophysiology of the pain.

As therapies for hereditary neuromuscular diseases are developed, the need for presymptomatic genetic testing and genetic counseling for early treatment is expected to increase. In Japan, there is no uniformly recommended protocol for presymptomatic genetic testing. In order to provide basic data for the establishment of a presymptomatic genetic testing system, we surveyed medical genetics departments in Japan about their current status (response rate: 67.4%). The questionnaire survey revealed that approximately 60% of facilities had established their own procedures for presymptomatic genetic testing, but the approaches used varied from facility to facility. The interview survey enabled us to identify the essential factors for the establishment of a presymptomatic genetic testing system for each case, each facility, and at the overall level. In the future, there is a need to develop a standardized protocol to help establish a presymptomatic genetic testing system.

A 44-year-old woman was admitted to our hospital due to dizziness and ataxia of the trunk and right upper limb. Brain MRI revealed an acute infarct lesion in the right posterior inferior cerebellar artery territory. In addition to the cognitive deterioration observed in the subacute phase, a change was noted in her food preference—from light-tasting, low-caloric Japanese cuisine, sugarless coffee, and hot drinks to strong-tasting, high-caloric Western cuisine, sugar-rich coffee, and iced drinks. Single-photon emission computed tomography showed hypoperfusion in the bilateral frontal lobes and right cerebellum. These cognitive and food preference-related changes were gradually restored over six months after the onset. The reduced cerebral blood flow in the bilateral frontal lobes also restored along with the clinical improvement, with the maximal changes in the bilateral subcallosal areas. This case suggests that changes in food preference can occur as a symptom of cerebellar infarction, possibly by the mechanism similar to cerebellar cognitive affective syndrome.

A 61-year-old man presented with transient dysarthria and left upper extremity numbness. Head MRI showed an acute infarct in the left temporal lobe and multiple old infarcts in the bilateral cortices. A transesophageal echocardiogram revealed a patent foramen ovale with a large shunt. No deep vein thrombosis was found. He suffered a recurrent cerebral infarction while taking antiplatelet therapy. An insertable cardiac monitor was implanted on the 41st day, and the antiplatelet treatment was changed to warfarin. The insertable cardiac monitor did not detect atrial fibrillation, even when the patient had a recurrent transient ischemic attack on the 57th day under warfarin therapy. The patient underwent percutaneous foramen ovale closure on the 63rd day. On postoperative days 18–25, an insertable cardiac monitor detected brief atrial fibrillation, and he took rivaroxaban for three months. Atrial fibrillation may occur secondary to percutaneous patent foramen ovale closure for cryptogenic stroke. The insertable cardiac monitor may help diagnose the pathogenesis of secondary atrial fibrillation and determine the optimal antithrombotic therapy.

An-88-year-old right-handed female complained of repeated intermittent hemiballism in the right upper and lower extremities. She presented to our hospital with monoparesis and asterixis of the right arm, but not hemiballism. Brain MRI revealed acute disseminated cerebral infarctions in the middle cerebral artery watershed area of the left hemisphere, including the striatum and cortical areas. Occlusion of the left internal carotid artery was also detected. She was diagnosed as acute cerebral infarction and received intravenous infusion, after which her neurological symptoms gradually improved. We presumed that the intermittent hemiballism was related to dysfunction of the motor loop induced by circulatory insufficiency in the left striatum, and that unilateral asterixis might be induced by hemodynamic hypoperfusion in the left frontal lobe. The hemodynamic changes induced by occlusion of the left internal carotid artery might be associated with pathogenesis of these involuntary movements.

A 50-year-old man was referred to our hospital with myelitis associated with a 10-months history of progressive muscle weakness in the left leg. Neurological examinations demonstrated diffuse muscle weakness of the left leg, touch hypoesthesia of the right leg, reduced pain sensation below the right nipple, left pyramidal sign, and urinary incontinence. On the basis of thoracic spinal MRI and thoracic CT myelography, revealing anterior displacement of the spinal cord and enlargement of the posterior subarachnoid space at the Th4 vertebral level, we diagnosed the patient as having idiopathic spinal cord herniation with incomplete Brown–Séquard syndrome. After microsurgical release of the spinal cord and subsequent covering of the anterior dural defect with an artificial dura mater, the symptoms improved without progression. Clinicians should consider spinal cord herniation as a cause of slowly progressive thoracic myelopathy with Brown–Séquard syndrome.

A 79-year-old-man with a clinical history of type 2 diabetes and hypertension was admitted to our hospital for recurrent right hemiparesis. He was referred to our department with left internal carotid artery stenosis. Cerebral angiography with a slight contrast agent revealed NASCET 86% stenosis at the left internal carotid bifurcation. Although no neurological deficit was observed, he had a renal dysfunction with an estimated glomerular filtration rate of 32.2 ml/min/1.73 m². We used a 3D fusion image obtained from the initial angiography with B-mode and intravascular ultrasound to avoid aggravating renal function instead of using a contrast medium. Following the procedure, favorable expansion of the stenotic region was achieved, and no evidence of recurrence was seen during the follow-up period. 3D fusion imaging is a valuable and safe method for endovascular treatment of carotid artery stenosis for patients with renal dysfunction.

The patient, a 50-year-old woman, presented with fever and diarrhea in early July, X. One week later, she noticed muscle weakness in both lower extremities, which upon examination was found to be dominant in the distal muscles, with associated loss of tendon reflexes. We diagnosed the case as Guillain–Barré syndrome. After admission, the patient experienced decreased oxygenation, and a chest X-ray indicated elevation of the left hemidiaphragm. The phrenic nerve conduction studies revealed laterality of the amplitude of compound muscle action potential, and diaphragmatic ultrasonographic examination revealed decreased left diaphragmatic wall motion. We diagnosed the patient with unilateral diaphragmatic nerve palsy and initiated intravenous immunoglobulin and methylprednisolone treatment. After 2 weeks, the patient demonstrated good clinical recovery, increased diaphragmatic nerve amplitude, and improved diaphragmatic movement. We evaluated the longitudinal clinical course of unilateral diaphragmatic nerve palsy in the patient using nerve conduction tests and diaphragmatic echocardiography. The longitudinal evaluation allowed us to assess the pathological condition more sensitively so that the prognosis could be predicted accurately.

We report the case of a 31-year-old man with a finger drop variant of Guillain–Barré syndrome (GBS). The patient visited a neurological clinic with complaints of difficulty in extending the fingers, which occurred seven days after he had fever and diarrhea. The physician who first saw the patient suspected posterior interosseous nerve palsy and referred him to our hospital. Neurological examination 35 days after the onset revealed distal weakness of the upper extremities, particularly in the bilateral extensor digitorum (Medical Research Council [MRC] scale 1/1 [right/left]). The left triceps surae muscle was also weak (MRC scale 5/4). Bilateral Achilles tendon reflexes were absent, but other neurological findings were normal. Cerebrospinal fluid examination showed albuminocytologic dissociation. Serum immunoglobulin G antibodies against GM1 were positive. Nerve conduction studies revealed reduced amplitude of compound muscle action potentials (CMAPs) without evidence of demyelination in the median, ulnar, radial, and tibial nerves. CMAP amplitude was most severely reduced in the radial nerve among the upper extremity nerves. We diagnosed the patient with acute motor axonal neuropathy. His symptoms gradually improved after treatment with intravenous immunoglobulin. When encountering acute finger drop, neurologists should consider the finger drop variant of GBS as a differential diagnosis.