Symptomatology and Neuropathology of patients presenting with focal cortical signs.

Here, we describe two patients who presented with focal cortical signs and underwent neuropathological examination. Case 1 was a 73-year-old woman with progressive speech disorder and abnormal behavior. She showed agraphia of the frontal lobe type, featured by the omission of kana letters when writing, other than pyramidal tract signs, pseudobulbar palsy, and frontal lobe dementia.

Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the gene.

Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare. We encountered a consanguineous family with two cases of late-onset cerebellar ataxia with neuropathy.

[Subacute autonomic and sensory neuropathy closely related to cytomegalovirus infection preceded by frequent syncopal attacks].

A 73-year-old woman who had hypertension developed a slight fever and general malaise with laboratory-proven hepatic dysfunction as well as frequent syncopal attacks 3 months before admission to our hospital. One month later, she developed urinary retention and distal limb numbness. Upon admission, her neurological examination showed reduced limb tendon reflexes, glove and stocking-type numbness, and diminished senses of touch, temperature, pain, and distal leg vibration and position.

ALS patients with ability to communicate after long-term mechanical ventilation have confined degeneration to the motor neuron system.

Objective: To clarify the position in the amyotrophic lateral sclerosis (ALS) spectrum, of a subgroup of patients who maintained the ability to communicate after long-term mechanical ventilation (LTMV) by tracheostomy.

Methods: We undertook a clinicopathological investigation of sporadic ALS in three patients who maintained the ability to communicate after approximately 30-year survival on LTMV by tracheostomy.

Results: The age of onset and duration of disease was 48 years and 31 years in patient 1, 55 years and 29 years in patient 2, and 31 years and 33 years in patient 3, respectively.

Predictive factors for prognosis following unsedated percutaneous endoscopic gastrostomy in ALS patients.

Introduction: This study aimed to determine the prognostic factors and the values that predict survival after percutaneous endoscopic gastrostomy (PEG) tube placement in patients with amyotrophic lateral sclerosis (ALS).

Methods: We retrospectively analyzed the correlations for 97 consecutive patients with ALS between clinical parameters and survival following PEG tube placement using the log-rank test and Cox proportional-hazards models.

Results: The log-rank test showed that an arterial carbon dioxide pressure (PaCO2 ) of ≤ 40 mmHg (P = 0.

A lethal intracranial Rosai-Dorfman disease of the brainstem diagnosed at autopsy.

Rosai-Dorfman disease (RDD) is a benign histiocytic proliferative disorder characterized by the accumulation of histiocytes in lymph nodes and various other organs. RDD seldom involves the central nervous system, and cases of purely intracranial RDD are particularly rare. We report a case of purely intracranial RDD involving the brainstem that was diagnosed at autopsy.

Predictors of impaired communication in amyotrophic lateral sclerosis patients with tracheostomy-invasive ventilation.

Predictors of communication impairment in patients with amyotrophic lateral sclerosis (ALS) using tracheostomy-invasive ventilation (TIV) were investigated. Seventy-six ALS patients using TIV were enrolled and classified into three subgroups of communication ability: patients who could communicate with communication devices (Stage I), patients who had difficulty with communication (Stage II, III, or IV), and patients who could not communicate by any means (Stage V). Predictors of communication impairment were analysed by the Cox proportional hazard model.

[A case of encephalitis with hyperfamiliarity for faces].

A 21-year-old right-handed woman was admitted to our hospital with fever, headache, and seizures. On admission, she showed anterograde and retrograde amnesia. These features, together with mild pleocytosis in the cerebrospinal fluid, led to the diagnosis of encephalitis.

Factors affecting longitudinal functional decline and survival in amyotrophic lateral sclerosis patients.

Our objective was to elucidate the clinical factors affecting functional decline and survival in Japanese amyotrophic lateral sclerosis (ALS) patients. We constructed a multicenter prospective ALS cohort that included 451 sporadic ALS patients in the analysis. We longitudinally utilized the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) as the functional scale, and determined the timing of introduction of a tracheostomy for positive-pressure ventilation and death.

The El Escorial criteria: strengths and weaknesses.

The El Escorial criteria for the diagnosis of amyotrophic lateral sclerosis (ALS) were established 20 years ago and have been used as inclusion criteria for clinical trials. However, concerns have been raised concerning their use as diagnostic criteria in clinical practice. Moreover, as modern genetics have shed new light on the heterogeneity of ALS and the close relationship between ALS and frontotemporal dementia (FTD) recognized, the World Federation of Neurology Research Group on ALS/MND has initiated discussions to amend and update the criteria, while preserving the essential components for clinical trial enrolment purposes.

Prognostic role of "prion-like propagation" in SOD1-linked familial ALS: an alternative view.

"Prion-like propagation" has recently been proposed for disease spread in Cu/Zn superoxide dismutase 1 (SOD1)-linked familial amyotrophic lateral sclerosis (ALS). Pathological SOD1 conformers are presumed to propagate via cell-to-cell transmission. In this model, the risk-based kinetics of neuronal cell loss over time appears to be represented by a sigmoidal function that reflects the kinetics of intercellular transmission.

Prevalence and incidence of amyotrophic lateral sclerosis in Japan.

Background: Previous studies have reported a high incidence of amyotrophic lateral sclerosis (ALS) in endemic foci in the Kii Peninsula, Japan. However, little is known about the ALS frequency in the whole country. Furthermore, the presence of ethnic variation in the incidence of ALS remains unknown.

Surgery for amygdala enlargement with mesial temporal lobe epilepsy: pathological findings and seizure outcome.

Objective: Amygdala enlargement (AE) has been suggested to be a subtype of mesial temporal lobe epilepsy (MTLE). However, most reports related to AE have referred to imaging studies, and there have been few reports regarding surgical and pathological findings. The present study was performed to clarify the surgical outcomes and pathology of AE.

Prevalence and Incidence of Amyotrophic Lateral Sclerosis in Japan.

Background: Previous studies have reported a high incidence of amyotrophic lateral sclerosis (ALS) in endemic foci in the Kii Peninsula, Japan. However, little is known about the ALS frequency in the whole country. Furthermore, the presence of ethnic variation in the incidence of ALS remains unknown.

A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).

Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is an X-linked dominant neurodegenerative disorder, and is classified as a subtype of neurodegeneration with brain iron accumulation. Recently, de novo heterozygous mutations in WDR45 at Xp11.23 have been reported in patients with SENDA.

[Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].

Multiple mitochondrial DNA (mtDNA) deletions usually occur secondarily to a mutation in one of the enzymes involved in mtDNA maintenance, such as polymerase γ, which is encoded by the nuclear polymerase γ1 gene (POLG1) and POLG2. Patients with multiple mtDNA deletion disorders show clinical heterogeneity of symptoms, in addition to usually seen progressive external ophthalmoplegia (PEO). We conducted clinical, histological and genetic analyses of two affected sisters in a family with the autosomal dominant inheritance pattern of PEO.

The Card Placing Test: a new test for evaluating the function of the retrosplenial and posterior cingulate cortices.

Background/aim: We developed a test named the Card Placing Test (CPT), which is potentially useful for evaluating a function of the retrosplenial and posterior cingulate cortices (RSC/PCC). Part A of the test assesses the ability of a subject to retain information on spatial locations of cards placed on the floor around the subject. Part B examines the subject's ability to integrate information on the spatial locations of similarly arranged cards and information on changes in body direction.

Unique combination of hyperintense vessel sign on initial FLAIR and delayed vasoconstriction on MRA in reversible cerebral vasoconstriction syndrome: a case report.

Background: Reversible cerebral vasoconstriction syndrome is characterized by thunderclap headache and reversible cerebral vasoconstriction on angiographic findings. It can be difficult to diagnose when initial angiography is normal.

Case Results: A 30-year-old woman was admitted because of sudden-onset thunderclap headache and seizure on postpartum day 7.

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.

Background: Autosomal-recessive hereditary spastic paraplegias (AR-HSP) consist of a genetically diverse group of neurodegenerative diseases characterised by pyramidal tracts dysfunction. The causative genes for many types of AR-HSP remain elusive. We tried to identify the gene mutation for AR-HSP with cerebellar ataxia and neuropathy.

[Pathomechanisms of motor neuron death by mutant TFG].

Mutations in TFG gene have been demonstrated in hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) and hereditary spastic paraplegia (HSP). A broad spectrum of TFG pathology is suspected in motor neuron diseases including amyotrophic lateral sclerosis (ALS). We performed mutation screening of TFG gene in ALS cases and evaluated the biological functions of mutant TFG by expression experiment in cultured cells.