A two-months-old, male, mixed breed cat presented with epileptic seizures. The cat was diagnosed with drug-resistant epilepsy, and died at 3-years of age. No gross lesion was found at necropsy. Histopathologically, the dentate gyrus granule cell layer of the hippocampus was irregularly arranged. Granule cells were dispersed and ectopic cells were sporadically observed in the molecular layer. The granule cells had an enlarged cytoplasm and swollen nucleus. Immunohistochemistry for NeuN and GFAP confirmed severe neuronal loss and mild gliosis in CA1. Binucleation and ischemic change were observed in the remaining pyramidal cells. This report describes a case of feline temporal lobe epilepsy and hippocampal sclerosis associated with dentate gyrus malformation.

Neurogenesis in the human brain has been validated to occur throughout adulthood. Recently, the human hippocampal neurogenesis field has been shaken by two significant reports that have been published with opposite reports, and these path-breaking studies have flipped the bandwagon of the neurogenesis field upside down, by questioning the existence of human hippocampal neurogenesis. Here, we discuss the findings by these two prominent papers, dissecting the potential reasons for conflicting results, insisting on the need to understand new observations critically, and further highlighting in what way the existing knowledge of adult hippocampal neurogenesis relates to the human.

We report an autopsy case of dementia associated with amyotrophic lateral sclerosis (ALS) in a 73-year-old female. She developed memory impairment at the age of 68 years. Atrophy of her hand muscles was noted at the age of 71 years. She was not aware of her memory impairment or muscle weakness, and was loquacious and euphoric. She was clinically diagnosed as having Alzheimer disease (AD) complicated by ALS with dementia/frontotemporal lobar degeneration with motor neuron disease (ALS-D/FTLD-MND). A neuropathological study confirmed the presence of features of sporadic ALS. Furthermore, severe neuronal loss involving the subiculum and the rostral portion of the medial side of the temporal pole cortex was detected, and TAR DNA-binding protein-43-positive-neuronal cytoplasmic inclusions were identified in the granule cells of the dentate gyrus. These findings were compatible with the pathological features of ALS-D/FTLD-MND. Although many pretangles, neuropil threads and senile plaques were revealed in the degenerated areas, there were few neurofibrillary tangles and typical plaques (Braak stage III, C). Further discussion is required to determine whether AD with ALS-D/FTLD-MND is different from typical AD. This case might be helpful for diagnosing similar cases in the future.

We report the fifth French case of fatal familial insomnia, characterized by a mutation at codon 178 of prion protein gene and by heterozygoty (Met/Val) at codon 129. The clinical picture included cerebellar ataxia, dysautonomia and frontal lobe syndrome. Prion protein gene analysis was performed in order to support a diagnosis of Creutzfeldt-Jakob disease and assert the diagnosis of fatal familial insomnia. Neuropathologic analysis showed unusual changes including severe neuronal loss in the inferior olive and the dentate nucleus, and absence of obvious lesions in the thalamus. Moreover, spongiform changes were moderate in the superior temporal cortex and the occipital cortex. There was no spongiform change in frontal cortex. Abnormal prion protein (PrP(res)) was mainly evidenced in the parietal cortex. Molecular genetic study of the PRNP gene should be performed in patients who present with a cerebellar ataxia of equivocal origin.

暂无摘要。

We report an autopsied case of presenile dementia showing neuropathologically abundant neurofibrillary tangles(NFT) without senile plaques(tangle only dementia). A Japanese woman developed memory disturbance when she was 60 years old. At age of 65, her ability to understand deteriorated and euphoria and wandering manifested but neither psychotic symptoms, including hallucination and delusion nor a change in character were observed. The patient was hospitalized at age 66 and a cranial CT scan revealed bilateral moderate atrophy of the cortex and moderate enlargement of the lateral ventricle, especially in the inferior horn. No lobar atrophy was detected. She exhibited an oral tendency and became appallic at her final stage and died at the age of 75. Autopsy showed that her brain weighed 850 g and neuropathological study showed numerous NFT mainly in the entorhinal (trans-entorhinal) region, subiculum, CA1-CA4, dentate gyrus, amygdara, subthalamic nucleus, basal nucleus of Meynert, substantia nigra and locus coeruleus. Severe neuronal loss with gliosis was noted in the temporal lobes including the hippocampal region. No senile plaque was detected in any of the brain regions. There have been some recent reports of patients with abundant NFT with the predominant involvement of the allocortex but no or very little senile plaque. All the patients in the reported cases were very elderly at onset(over 80 years of age). In our case, the onset was presenile and we could exclude any other diseases, that usually present with NFT, and to our knowledge, this is the first report of a presenile dementia with tangles.

A 44-year-old Japanese man was diagnosed as having late adult-onset dentatorubral-pallidoluysian atrophy (DRPLA), whose CAG repeats in the DRPLA gene were 60 and 15. He developed gait disturbance, limb ataxia, pyramidal tract signs, dementia, and psychiatric symptoms including character changes within a few years of the above diagnosis. His T 2-weighted brain MRI showed symmetric high-signal lesions in the cerebral white matter and brain stem, in addition to cerebellar, brain stem, and cerebral cortical atrophy. Since the results of RI cisternography indicated that he manifested the clinical features of normal pressure hydrocephalus (NPH), V-P shunt operation was done. In a week after the operation, his gait disturbance, pyramidal tract signs, dementia and psychiatric symptoms were remarkably improved. White matter lesions have been thought to be concomitant with late adult-onset DRPLA patients, but some of these patients may have characteristics of NPH pathophysiology.

We report here a case of an 11-year-old boy with juvenile type of dentatorubral-pallidoluysian atrophy (DRPLA). His psychomotor development has been delayed since infancy and cerebellar ataxia was noted at the age of 2 years, indicating an early onset. At the age of 6 years, he had progressive myoclonus epilepsy (PME) and underwent a series of neuroradiological, electrophysiological and pathological examinations, which failed to reveal the etiology. Gene analysis performed at the age of 11 years revealed an expanded CAG repeat at the DRPLA locus in both the patient and his asymptomatic father. In the absence of a positive family history, a diagnosis of DRPLA may be difficult due to its clinical variability. We conclude that DRPLA should be taken into account in the differential diagnosis of childhood PME and that gene analysis should be performed to confirm a diagnosis of DRPLA.