Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation.

A 41-year-old man presented with gradually progressing proximal-dominant lower limb atrophy and weakness. His brother, mother and maternal aunt had the same symptoms. A physical examination and muscle imaging (CT and ultrasound) showed selective muscle involvement of the bilateral paraspinal, gluteus and posterior groups of lower limb muscles.

CD62-mediated activation of platelets in cerebral white matter lesions in patients with cognitive decline.

Background: Vascular dementia is related to intracranial arteriosclerosis associated with deep white matter lesions (DWMLs). DWMLs have been linked to thrombogenesis due to sustained platelet activation; therefore, an accurate hematological marker is needed. This study was done to evaluate the usefulness of a new method to examine the function of activated platelets in order to assess DWMLs associated with cognitive decline.

Intensive blood pressure-lowering treatment in patients with acute lacunar infarction.

Background: The optimal management of high blood pressure (BP) during the acute stage of stroke has yet to be established. To test the extent to which BP can be lowered without causing adverse effects and to determine the safety or efficacy of administration of antihypertensive agents in acute ischemic stroke, we performed ambulatory BP monitoring (ABPM) before and after administration of angiotensin receptor blockers (ARBs) with and without diuretics to monitor the ABPM profile after acute lacunar infarction. Patients with lacunar infarcts are presumed to be less vulnerable to reduced cerebral perfusion pressure in the ischemic tissue because of BP lowering.

Inactivation of the putamen selectively impairs reward history-based action selection.

Behavioral decisions and actions are directed to achieve specific goals and to obtain rewards and escape punishments. Previous studies involving the recording of neuronal activity suggest the involvement of the cerebral cortex, basal ganglia, and midbrain dopamine system in these processes. The value signal of the action options is represented in the striatum, updated by reward prediction errors, and used for selecting higher-value actions.

Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue.

Most previously reported mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) result in an odd number of cysteine residues within the epidermal growth factor (EGF)-like repeats in Notch3. We report here R75P mutation in two Japanese CADASIL families not directly involving cysteine residues located within the first EGF-like repeats. Probands in both families had repeated episodes of stroke, depression, dementia as well as T2 high-intensity lesions in the basal ganglia and periventricular white matter, but fewer white matter lesions in the temporal pole on MRI.

[A case of amyotrophic lateral sclerosis presenting as motor aphasia in its early stage].

A 76-year-old right-handed woman complained of speech disturbance and difficulity of singing was admitted to our hospital. Examination showed motor aphasia and mild cognitive impairment. After she was discharged, dementia and weakness of the extremities had rapidly progressed.

Effect of the angiotensin-converting enzyme inhibitor perindopril on 24-hour blood pressure in patients with lacunar infarction: comparison between dippers and non-dippers.

Antihypertensive therapy based on the angiotensin-converting enzyme (ACE) inhibitor perindopril reduced the incidence of recurrent stroke in the Perindopril Protection against Recurrent Stroke Study (PROGRESS). The present study assessed the effect of perindopril on the 24-h blood pressure (BP) in hypertensive patients with lacunar infarction using ambulatory BP monitoring (ABPM). There was a 4-week observation period, a 4-week treatment period 1 (perindopril at 2 mg/day), and a 4-week treatment period 2 (perindopril at 4 mg/day).

Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics.

We report two autopsy cases of siblings with adult-onset autosomal dominant leukodystrophy characterized by destruction of cerebral white matter, large numbers of axonal spheroids and pigmented glia in the fronto-temporal lobes. Both patients presented with motor and cognitive symptoms and aphasia, 2-3 years before death. At autopsy, the brain showed brown coloration and decreased volume of white matter in the frontal and temporal lobes as well as corpus callosum.

Idiopathic thrombocytopenic purpura and mononeuropathy multiplex.

Peripheral neuropathy is an uncommon complication of idiopathic thrombocytopenic purpura (ITP). We report a 61-year-old man with ITP who developed acute-onset mononeuropathy multiplex. An electrophysiologic study revealed active axonal degenerative alteration, and a sural nerve biopsy showed axonal degeneration.