UNASSIGNED: Parinaud syndrome is a dorsal mid-brain syndrome characterized by upgaze paralysis, convergence retraction nystagmus, and pupillary light-near dissociation. Infarctions or hemorrhages involving the mid-brain are the most frequent causes in older adults.
UNASSIGNED: To report a novel case of a patient who presented with classical parkinsonian signs and Parinaud syndrome.
UNASSIGNED: Patient data were obtained from medical records from the Department of General Medicine, Burdwan Medical College and Hospital, Burdwan, West Bengal, India.
UNASSIGNED: A 62-year-old previously healthy man presented with motor and non-motor symptoms of Parkinson\'s disease (PD) for the past 6 years. The neurological examination revealed an asymmetric resting tremor of the upper limbs with rigidity, bradykinesia, hypophonia, hypomimia, decreased blinking, and micrographia. The neuro-ophthalmological examination showed Parinaud syndrome. He was treated with levodopa-carbidopa and trihexyphenidyl. After 6 months and 1 year of follow-up, his neurological condition was re-assessed; motor symptoms improved substantially, but Parinaud syndrome persisted.
UNASSIGNED: Parinaud syndrome can be a potential manifestation of PD. A detailed neuro-ophthamological examination should be carried out even in patients having a diagnosis of classic PD in whom eye-movement abnormalities are distinctly infrequent.

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Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal storage disorder caused by biallelic mutations in MCOLN1 gene encoding the transient receptor potential channel mucolipin-1. So far, 35 pathogenic or likely pathogenic MLIV-related variants have been described. Clinical manifestations include severe intellectual disability, speech deficit, progressive visual impairment leading to blindness, and myopathy. The severity of the condition may vary, including less severe psychomotor delay and/or ocular findings. As no striking recognizable facial dysmorphism, skeletal anomalies, organomegaly, or lysosomal enzyme abnormalities in serum are common features of MLIV, the clinical diagnosis may be significantly improved because of characteristic ophthalmological anomalies. This review aims to outline the pathophysiology and genetic defects of this condition with a focus on the genotype-phenotype correlation amongst cases published in the literature. The authors will present their own clinical observations and long-term outcomes in adult MLIV cases.

The proverbial \"zebras\" in neurology are often times missed due to their low prevalence and incidence in the community. The number of misdiagnoses and improper therapeutic interventions that occur are further increased when patients with these rare diseases present with signs and symptoms of more common disorders. One such disease is sporadic Creutzfeldt-Jakob disease (sCJD), a prion disease that causes neuronal derangement and classically presents as a rapidly progressing dementia with extrapyramidal signs, ataxia, behavioural problems, and myoclonus in the advanced stage. It falls into the category of neurodegenerative disease, which also includes Alzheimer\'s disease, Huntington\'s disease, Parkinson\'s disease, and other Parkinson-related diseases. Though these diseases have overlapping symptomologies - such as cognitive impairment and neuromuscular dysfunction - they can be differentiated from one another based on the time course of the illness and the specific constellation of signs and symptoms. Our case report describes a patient who was found to have sCJD after months of treatment for Parkinson\'s disease and trigeminal neuralgia. Thus, we are highlighting the importance of recognizing rare diseases so that proper management can be initiated in a timely manner. Furthermore, we review the current literature on the diagnosis and management of sCJD.

BACKGROUND: Why an autoimmune disease that is the main cause of the acute neuromuscular paralysis worldwide does not have a well-characterized cause or an effective treatment yet? The existence of different clinical variants for the Guillain-Barré syndrome (GBS) coupled with the fact that a high number of pathogens can cause an infection that sometimes, but not always, precedes the development of the syndrome, confers a high degree of uncertainty for both prognosis and treatment. In the post-genomic era, the development of omics technologies for the high-throughput analysis of biological molecules is allowing the characterization of biological systems in a degree of depth unimaginable before. In this context, this work summarizes the application of post-genomics technologies to the study of GBS.
METHODS: We performed a structured search of bibliographic databases for peer-reviewed research literature to outline the state of the art with regard the application of post-genomics technologies to the study of GBS. The quality of retrieved papers was assessed using standard tools and thirty-four were included in the review. To date, transcriptomics and proteomics have been the unique post-genomics approaches applied to GBS study. Most of these studies have been performed on cerebrospinal fluid samples and only a few studies have been conducted with other samples such as serum, Schwann cells and human peripheral nerve.
CONCLUSIONS: In the post-genomics era, transcriptomics and proteomics have shown the possibilities that omics technologies can offer for a better understanding of the immunological and pathological mechanisms involved in GBS and the identification of potential biomarkers, but these results have only shown the tip of the iceberg and there is still a long way to exploit the full potential that post-genomics approaches could offer to the study of the GBS. The integration of different omics datasets through a systems biology approach could allow network-based analyses to describe the complexity and functionality of the molecular mechanisms involved in the course of disease facilitating the discovery of novel biomarkers that could be used to improve the diagnosis, predict the disease progression, improve our understanding of the pathology, and serve as therapeutic targets for GBS.

Neuronal intranuclear (hyaline) inclusion disease (NIID) is a rare neurodegenerative disorder with a variable clinical presentation and multiple subtypes. We present the clinicopathologic details of a patient with juvenile-onset NIID and discuss the pathogenesis. We also discuss the utility of antemortem skin biopsy which was negative in our case.

Posterior cortical atrophy (PCA) is a syndrome caused by a neurodegenerative disease that often presents with visuospatial deficits, and can be debilitating. PCA is often characterized by elements of Balint\'s syndrome and dyslexia. The most common underlying pathology has been found to be Alzheimer\'s disease. Signs of horizontal neglect are frequently associated with PCA, but the presence of vertical (or altitudinal) neglect has not yet been reported in a patient with PCA or other forms of neurodegenerative dementia. In this paper, we present a patient with PCA who on vertical line bisection and cancellation tests revealed upper altitudinal spatial neglect. Detection of this abnormality may have important implications for diagnosis, therapeutic interventions, and patient safety.

BACKGROUND: We report a novel case of a rare disease: spontaneous Creutzfeldt-Jakob disease in a patient with well-controlled HIV. We explore the relationship between spontaneous Creutzfeldt-Jakob disease and HIV.
METHODS: A 66-year-old man with long-standing, well-controlled HIV infection presented with 3 months of progressive, subacute neurocognitive decline. His symptoms included conceptual apraxia, apathy, memory impairment, and gait disturbance, and were initially attributed to depressive \"pseudo-dementia.\" Unfortunately, the patient\'s symptoms rapidly progressed and he ultimately succumbed to his illness. Autopsy confirmed the clinical diagnosis of spontaneous Creutzfeldt-Jakob disease.
CONCLUSIONS: This case highlights spontaneous Creutzfeldt-Jakob disease as a rare terminal illness in the setting of well-controlled chronic HIV. To our knowledge, this is the first report of a patient with chronic and previously well-controlled HIV infection dying from a prion disease. Despite the very different epidemiology and pathophysiology of HIV and spontaneous Creutzfeldt-Jakob disease, this case does raise questions of whether certain host genetic factors could predispose to both conditions, albeit currently, there is no clear causal link between HIV and spontaneous Creutzfeldt-Jakob disease.

Data on the prevalence of RBD in patients with PAF are limited, with discrepancies in the literature regarding prevalence. We aimed to provide further data on this association with a series of eight patients with PAF.
We reviewed the electronic medical records of all patients seen at the Stanford neurology clinics from 2012 to 2016 who were given a provisional diagnosis of PAF (343 patients), and further screened by procedure codes to identify those patients who underwent both attended video-polysomonography and autonomic testing (18 patients), and met strict exclusionary criteria (8 patients).
The mean age of our patients was 69 years, and 63 % were women. The mean duration of autonomic symptoms was 11.2 years, and the mean duration of dream enactment was 3.75 years. All patients demonstrated evidence of adrenergic failure on autonomic testing. Five out of 8 (63 %) met diagnostic criteria for RBD, confirmed on vPSG.
Our series supports the concept that RBD in PAF may be more common than previously reported, and that the presence of RBD suggests brainstem involvement in some cases of PAF. In addition, the timing of RBD symptoms relative to the emergence of autonomic symptoms may be useful to help distinguish these conditions.

OBJECTIVE: To investigate demography and clinic and polysomnographic characteristics in Chinese rapid eye movement (REM) sleep behavior disorder (RBD) patients across onset ages.
METHODS: Ninety consecutive patients fulfilling the criteria for RBD were recruited for study in our sleep center. Patients were separated into early- and late-onset groups according to age when symptoms began (< or =50 and >50 years, respectively). Ninety age- and gender-matched healthy subjects served as controls. All subjects were interviewed for their clinical history, completed an RBD questionnaire, and underwent an overnight video polysomnography assessment. Demographics, comorbidities, scores on the RBD questionnaire, sleep architecture, and EMG activity were compared between the patients and controls and between the early- and late-onset groups.
RESULTS: Of all RBD patients, 63 were male, and mean age of RBD onset was 54.3±15.7 years. In 25 patients (28%), RBD was secondary and associated with neurodegenerative disease, narcolepsy or antidepressant use. Twenty-three patients (26%) had early-onset RBD and 67 (74%) were in the late-onset group. RBD patients had significantly more comorbidities, dreams and dream-enacting behaviors, and poorer sleep quality than did controls. The early-onset group had a high proportion of females (48%) and an increased proportion of cases associated with narcolepsy. The early-onset group also had fewer movements, lower EMG activity during REM sleep, and better sleep quality when compared to the late-onset group. EMG activity was positively correlated with age of onset. The mean follow-up time was 1.57±0.82 years, and four patients in the late-onset group were subsequently diagnosed with neurodegenerative diseases.
CONCLUSIONS: Stratifying patients into early and late-onset RBD revealed different characteristics from those previously described as typical for RBD. EMG activity during REM sleep was positively correlated with age of onset. We suggest that it will be valuable to explore the relationship between age of onset conversion and neurodegenerative diseases.