Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.

In this report, we describe the case of a new Japanese family (32 to 64 years old; 2 females and 1 male) affected by adult-onset Alexander disease. Clinically, one member (age at onset, 56 years old) developed cerebellar ataxia, another (age at onset, 55 years old) showed cerebellar ataxia and pseudobulbar signs, and one member (32 years old) was asymptomatic. Marked atrophy of the medulla oblongata and spinal cord was detected in the two symptomatic patients by magnetic resonance imaging (MRI).

A patient with splenic marginal zone lymphoma presenting with spastic paraplegia as the initial symptom.

In this report, we describe the case of a patient with splenic marginal zone lymphoma (SMZL) who presented with spastic paraplegia as the initial symptom. A 42-year-old male developed progressive spastic paraplegia over 4 months. His neurologic examination revealed paraplegia with pyramidal syndrome, hypoesthesia below the T1 level, and anal hypotonia.

Isolated astasia in acute infarction of the supplementary-motor area.

Astasia, which is the inability to stand in the absence of motor weakness or marked sensory loss, is an uncommon clinical feature of stroke in the thalamic ventrolateral region. The authors describe a patient with a unilateral supplementary motor area (SMA) infarction presenting with contralateral astasia. On neurological examination, he would lean to the left side and would fall unless supported.

Hypoperfusion of the motor cortex associated with parkinsonism in dementia with Lewy bodies.

Objective: This study aimed to investigate the impact of parkinsonism on regional cerebral blood flow (rCBF) in dementia with Lewy bodies (DLB).

Method: Forty-four probable DLB patients, comprising 13 patients without parkinsonism and 31 patients with parkinsonism, and 16 normal controls were selected for this study. We evaluated the rCBF in each group by means of N-isopropyl-p-[(123)I] iodoamphetamine (IMP) and single photon emission computed tomography (SPECT).

[Body lateropulsion as the main symptom of pontine vascular disease--comparison with lateral medullary vascular disease].

Lateropulsion of the body is rarely encountered as an isolated or predominant manifestation of pontine cerebrovascular disease. We compared 2 cases of pontine vascular lesions with 3 cases of lateral medullary infarction; all the patients had presented with body lateropulsion. The patients with pontine lesions tended to full on the side contralateral to the lesion,whereas the patients with lateral medullary infarction, fell on the ipsilateral side.

Hepatitis B virus-related vasculitis manifesting as severe peripheral neuropathy following influenza vaccination.

We report the case of a 68-year-old man who developed hepatitis B virus (HBV)-related vasculitis, manifesting as mononeuritis multiplex, 8 days after influenza vaccination. The patient was a carrier of wild-type HBV, and had never received influenza vaccination. Histologic examination of the left sural nerve revealed necrotising vasculitis predominantly involving small blood vessels.

Delirium in two patients with Bickerstaff's brainstem encephalitis.

In this report, we describe the case of two patients with Bickerstaff's brainstem encephalitis (BBE) who developed delirium manifested as emotional incontinence, restlessness, and aggressive behavior from disease onset. Serum anti-GQ1b and anti-GT1a IgG antibodies were detected in both patients. When unusual psychiatric symptoms are observed, in addition to acute ophthalmoplegia and ataxia, neurologists should take into account the possibility of BBE.

Paradoxical cerebral embolism as the initial symptom in a patient with ovarian cancer.

This report concerns a 37-year-old patient with ovarian cancer and a paradoxical cerebral embolism as the initial symptom. She developed acute onset of left quadrantic hemianopia during coughing. Brain magnetic resonance imaging showed an acute multiple infarction, and a simultaneous acute pulmonary embolism was observed.

[Successful use of methylprednisolone therapy in a case of non-herpetic acute encephalitis with antibodies against ionotropic glutamate receptor epsilon2 and delta2].

This report concerns a 32-year old man with non-herpetic acute limbic encephalitis. He was admitted to our hospital because of high fever and consciousness disturbance. Cranial MRI revealed abnormal signal intensities in the bilateral mesial temporal lobes.

A case of diabetic amyotrophy with severe atrophy and weakness of shoulder girdle muscles showing good response to intravenous immune globulin.

A 45-year-old man with insulin-dependent diabetic mellitus developed progressive asymmetrical weakness and atrophy of both shoulder girdle muscles within 1 year. In the last month, he also developed slight weakness of both thighs. Neuropathology of the sural nerve showed an axonal degeneration and perivascular inflammation and electromyography revealed neurogenic changes.

[A case of acute oropharyngeal palsy with nasal voice as main symptom].

We report a patient with acute oropharyngeal palsy following enteritis. A 19-year-old woman developed increasing nasal voice over a few days. Neurological examination on day 7 of her course showed paretic dysarthria and mild weakness of neck flexion and quadriceps femoris muscle (Medical Research Council grade, 4+).

Bilateral iliopsoas hematomas complicating anticoagulant therapy.

An 85-year-old woman receiving anticoagulant therapy for transient ischemic attack suddenly developed bilateral femoral nerve palsy and severe pain in the bilateral groin and thighs. Her platelet count, prothrombin time and activated partial thromboplastin time were within the therapeutic range. Hematomas in the bilateral iliopsoas muscles were clearly detectable on CT scan.

Infectious endocarditis associated with subarachnoid hemorrhage, subdural hematoma and multiple brain abscesses.

Hemorrhagic stroke is a complication of infectious endocarditis (IE), and severe hemorrhage accompanies Staphylococcus aureus IE during early uncontrolled infection. However, subarachnoid hemorrhage (SAH) or subdural hematoma is rare. A case of S.

[A patient with primary Sjögren's syndrome featuring polyneuropathy and oculomotor paralysis and associated with asymptomatic left middle cerebral artery stenosis].

We report a case of primary Sjögren's syndrome (primary SjS) with polyneuropathy and right oculomotor paralysis associated with middle cerebral artery stenosis. A 39-year-old woman developed progressive numbness and clumsiness of the limbs. Two months later, right third cranial palsy manifested itself and she was admitted to our hospital.

Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy.

Background: Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset autosomal dominant muscle disease with a worldwide distribution. Recent findings reveal the genetic basis of this disease to be mutations in the polyA binding-protein 2 (PABP2) gene that involve short expansions of the GCG trinucleotide repeat encoding a polyalanine tract. The underlying mechanism causing the triplet-expansion mutation in PABP2 remains to be elucidated, although the DNA slippage model is thought to be a plausible explanation of that.