GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.

GNE myopathy is an autosomal recessive muscular disorder caused by mutations in the gene encoding the key enzyme in sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE/MNK). Here, we report two siblings with myopathy with rimmed vacuoles and congenital thrombocytopenia who harbored two compound heterozygous GNE mutations, p.V603L and p.

Presence of six different lesion types suggests diverse mechanisms of tissue injury in neuromyelitis optica.

Neuromyelitis optica (NMO) is an autoimmune disease targeting aquaporin 4 (AQP4), localized mainly at the astrocytic foot processes. Loss of AQP4 and glial fibrillary acidic protein (GFAP) was reported, but the pathological significance of astrocytopathy is still controversial. Here we show that active lesions in NMO display a wide spectrum of pathology even within a single tissue block of an individual patient.

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

Objective And Methods: Dysferlin encoded by DYSF deficiency leads to two main phenotypes, limb girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy. To reveal in detail the mutational and clinical features of LGMD2B in Japan, we observed 40 Japanese patients in 36 families with LGMD2B in whom dysferlin mutations were confirmed.

Results And Conclusions: Three mutations (c.

FUS/TLS-immunoreactive neuronal and glial cell inclusions increase with disease duration in familial amyotrophic lateral sclerosis with an R521C FUS/TLS mutation.

Basophilic inclusions (BIs) are pathological features of a subset of frontotemporal lobar degeneration disorders, including sporadic amyotrophic lateral sclerosis (ALS) and familial ALS (FALS). Mutations in the fused in sarcoma/translocated in liposarcoma (FUS/TLS) gene have recently been identified as a cause of FALS. The FUS/TLS-immunoreactive inclusions are consistently found in cases of frontotemporal lobar degeneration with BIs; however, the association between ALS cases with BIs and FUS/TLS accumulation is not well understood.

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.

Mutations in the fused in sarcoma (FUS, also known as translated in liposarcoma) gene have been recently discovered to be associated with familial amyotrophic lateral sclerosis (FALS) in African, European and American populations. In a Japanese family with FALS, we found the R521C FUS mutation, which has been reported to be found in various ethnic backgrounds. The family history revealed 23 patients with FALS among 46 family members, suggesting a 100% penetrance rate.

Neuromyelitis optica/Devic's disease: gene expression profiling of brain lesions.

Neuromyelitis optica (NMO), also known as Devic's disease, is an inflammatory demyelinating disease that affects selectively the optic nerves and the spinal cord, possibly mediated by an immune mechanism distinct from that of multiple sclerosis (MS). Recent studies indicate that NMO also involves the brain. Here, we studied gene expression profile of brain lesions of a patient with NMO by using DNA microarray, along with gene expression profile of the brains of Parkinson disease and amyotrophic lateral sclerosis patients.

Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution.

Objective: To describe the clinical features of Creutzfeldt-Jakob disease with a substitution of arginine for methionine (M232R substitution) at codon 232 (CJD232) of the prion protein gene (PRNP).

Patients And Methods: We evaluated the clinical and laboratory features of 20 CJD232 patients: age of onset, initial symptoms, duration until becoming akinetic and mute, duration until occurrence of periodic sharp and wave complexes on EEG (PSWC), MRI findings, and the presence of CSF 14-3-3 protein. Immunohistochemically, prion protein (PrP) deposition was studied.

Human astrocytes express aquaporin-1 and aquaporin-4 in vitro and in vivo.

Aquaporins (AQP) constitute an evolutionarily conserved family of integral membrane water transport channel proteins. Previous studies indicate that AQP1 is expressed exclusively in the choroid plexus epithelium, while AQP4 is localized on the vascular foot of astrocytes in the central nervous system (CNS) under physiological conditions. To investigate a role of AQP in the pathophysiology of neurological diseases involving astrogliosis we studied the expression of AQP1 and AQP4 in cultured human astrocytes and brain tissues of multiple sclerosis (MS), cerebral infarction and control cases.

A case of dysferlinopathy presenting choreic movements.

Mutations in the dysferlin gene cause limb-girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements.

Loss of aquaporin-4 in active perivascular lesions in neuromyelitis optica: a case report.

Neuromyelitis optica (NMO) is clinically characterized by severe optic neuritis and transverse myelitis. In Japan, NMO has been named optic-spinal multiple sclerosis (OSMS) and it has been thought to be a subtype of multiple sclerosis (MS). However, several clinical and laboratory findings suggest NMO or OSMS is distinct from MS.

Fatal subarachnoid hemorrhage, with brainstem and cerebellar infarction, caused by Aspergillus infection after cerebral aneurysm surgery: case report.

Objective And Importance: Intracranial aspergillosis has been reported to cause subarachnoid hemorrhage (SAH) attributable to ruptured mycotic aneurysms. We describe a case of Aspergillus arteritis that caused SAH without aneurysm formation, followed by successive brainstem and cerebellar infarction.

Clinical Presentation: A 50-year-old woman experienced a sudden onset of headache.