Journal of the neurological sciences
-
We describe detailed clinical, biochemical, neuroimaging and neuropathological features in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD), linked to colony-stimulating factor 1 receptor (CSF1R) mutations in four Korean cases. Clinical, biochemical, neuroimaging and neuropathological findings were obtained by direct evaluation and from previous medical records. The genetic analysis of the CSF1R gene was done in two autopsy-confirmed ALSP cases and two cases where ALSP was suspected based on the clinical and neuroimaging characteristics. ⋯ We also found a novel mutation (c.2296A>G; p. M766V) in a patient presenting with hand tremor, stuttering and hesitant speech, and abnormal behavior whose father died from a possible diagnosis of spinocerebellar ataxia. To the best of our knowledge, this is the first documented ALSP-linked CSF1R mutation in Korea and supports the suggestion that HDLS and POLD, with pathological characteristics that are somewhat different but which are caused by CSF1R mutations, are the same spectrum of disease, ALSP.
-
Case Reports
Clinically mild encephalitis with a reversible splenial lesion (MERS) after mumps vaccination.
We retrospectively collected three patients with clinically mild encephalitis with a reversible splenial lesion (MERS) after mumps vaccination, and reviewed five patients, including two patients previously reported. The five patients (all males, aged 1 to 9) presented with fever, vomiting, or headache as the initial symptoms (day 0), suggesting meningitis, at 13 to 21 days after mumps vaccination. Consciousness disturbance, delirious behavior, seizures, or dysarthria was observed on days 1 to 3, which had completely resolved before day 11. ⋯ These findings led to a diagnosis of MERS after mumps vaccination. MERS after mumps vaccination may be more common than previously considered. MERS is suspected when a male patient after mumps vaccination presents with neurological symptoms with hyponatremia, following symptoms of aseptic meningitis, and MRI would be performed to examine the splenium of the corpus callosum.
-
Our goal was to identify brain structures responsible for pain-related autonomic changes by the correlation of simultaneously acquired functional magnetic resonance imaging (fMRI) and electrocardiogram (ECG) data. ⋯ There are some simultaneous ECG-fMRI and ECG-Positron Emission Tomography (PET) studies, but limited information is available about the pain-related brain function-HRV relations. The novelty of our study is that we used pain as stimulus to activate the central autonomic network and investigated both frequency- and time-domain parameters of HRV.
-
Observational Study
Bochum ultrasound score allows distinction of chronic inflammatory from multifocal acquired demyelinating polyneuropathies.
The aim of this observational study was to evaluate the applicability of a recently introduced ultrasound score (Bochum ultrasound score; BUS) in distinguishing the chronic inflammatory demyelinating polyneuropathy (CIDP) from the multifocal motor neuropathy (MMN) or the multifocal acquired demyelinating sensory and motor neuropathy (MADSAM). ⋯ The BUS seems to allow a reliable distinction of CIDP from multifocal acquired demyelinating polyneuropathies causing predominantly motor nerve dysfunction, such as MMN or MADSAM. Our ultrasound findings indicate a stronger relationship of MADSAM to MMN, than to CIDP.
-
Comparative Study
Role of diffusion tensor imaging or magnetic resonance spectroscopy in the diagnosis and disability assessment of amyotrophic lateral sclerosis.
To compare the results of magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) in amyotrophic lateral sclerosis (ALS) patients. ⋯ NAA/Cr and FA can help diagnose ALS. Regional brain NAA/Cr and FA values could not assess the ALSFRS-R or disease progression rate.