ABSTRACT
<p><b>BACKGROUND</b>The brain stem is found to be impaired in multiple system atrophy-cerebellar types (MSA-C). Rapid eye movement (REM) sleep behavior disorder (RBD) is reported as a marker of progressive brain stem dysfunction. Few systematic studies about the sleep disturbances in MSA-C patients combined with or without RBD were reported. This study aimed to explore the polysomnographic (PSG) features of sleep disturbances between MSA-C patients with and without RBD.</p><p><b>METHODS</b>Totally, 46 MSA-C patients (23 with RBD, and 23 without RBD) were enrolled in this study. All patients underwent a structured interview for their demographic data, history of sleep pattern, and movement disorders; and then, overnight video-PSG was performed in each patient. All the records were evaluated by specialists at the Sleep Medicine Clinic for RBD and the Movement Disorder Clinic for MSA-C. The Student's t-test, Mann-Whitney U-test for continuous variables, and the Chi-square test for categorical variables were used in this study.</p><p><b>RESULTS</b>MSA-C patients with RBD had younger visiting age (52.6 ± 7.4 vs. 56.7 ± 6.0 years, P = 0.046) and shorter duration of the disease (12.0 [12.0, 24.0] vs. 24.0 [14.0, 36.0] months, P = 0.009) than MSA-C patients without RBD. MSA-C with RBD had shorter REM sleep latency (111.7 ± 48.2 vs. 157.0 ± 68.8 min, P = 0.042), higher percentage of REM sleep (14.9% ±4.0% vs. 10.0% ± 3.2%, P = 0.019), and lower Stage I (9.5% ±7.2% vs. 15.9% ±8.0%, P = 0.027) than MSA-C without RBD. Moreover, MSA-C patients with RBD had more decreased sleep efficiency (52.4% ±12.6% vs. 65.8% ±15.9%, P = 0.029) than that without RBD.</p><p><b>CONCLUSIONS</b>In addition to the RBD, MSA-C patients with RBD had other more severe sleep disturbances than those without RBD. The sleep disorders of MSA patients might be associated with the progress of the disease.</p>
Subject(s)
Female , Humans , Male , Middle Aged , Cerebellar Ataxia , Embryology , Multiple System Atrophy , Polysomnography , REM Sleep Behavior DisorderABSTRACT
Objective To investigate the clinical, cerebrospinal fluid and imaging characteristics of 5 cases of diffuse meningeal melanomatosis.Methods The clinical manifestation, features of cerebrospinal fluid and image of 5 patients with meningeal melanomatosis diagnosed by biopsy or autopsy were retrospectively summarized.Results Clinical manifestations of these 5 cases included intracranial hyperpressure, meningeal irritation sign, intracranial nerves impairment, root pain of spinal nerve.In all of these 5 cases, retina hyperpigmentation above left discus opticus was found by funduseope in one case, and congenital melanocytic nevi were found in 4 patients, in which 2 cases were giant congenital melanocytic nevi.Increased lumbar puncture cerebrospinal fluid(CSF)pressure occurred in all cases.Subarachnoid hemorrhage was found in 3 cases.Analysis of CSF revealed increased protein in 4 cases and decreased glucose in 3 cases.Cranial MRI obtained after the intravenous administration of Gd-DTPA showed leptomeningeal enhancement.Malignant melanoma cells were found in CSF of 3 cases.Metastatic malignant melanoma cells were found by biopsy of axillary fossa lymph node in one case.Autopsy of one case revealed diffuse black pigmentation of the leptomeninges, especially in base of skull.Two cases were diagnosed as metastatic meningeal melanomatosis and 3 cases were possible primary meningeal melanomatosis. Conclusions Menings, root of cranial nerve and spinal nerve are impaired in meningeal melanomatosis, which is usually accompanied by congenital melanocytic nevi.Subarachnoid hemorrhage implies meningeal melanomatosis.Diagnosis can be identified when malignant melanoma cells are found in CSF.
ABSTRACT
Objective To report a large family with an autosomal dominant dementia associated with mutation in the prion protein gene(PRNP)and the detailed clinical,neuroimaging and pathological manifestations.Methods Two patients from a large family of dementia were admitted to our ward and the data of their medical history,physical examination,video electroenceplialogram,neuroimaging were colleted.A sterotactic biopsy of the right frontal lobe of the proband was done.After the informed consent from the family members obtained,the genomic DNA was extracted from peripheral blood leucocytes of 5 persons followed by in,vitro amplification using polymerase chain reaction(PCR).The PCR products were directly sequenced by Sanger method.PRNP gene sequence was also examined in 150 normal Chinese to exclude single nueleotide polymorphism.Results A missense mutation of PRNP gene in 5 farnily members was detected,resulting in Gll4V mutation in the prion protein,with M/M genotype of eodon 129.This mutation was not detected in 150 normal Chinese.The proband was diagnosed as inherited prion disease by her clinical features,including neuropsychiatrie disturbances and progressive dementia,and manifestations of neuroimaging,EEG,neuropathology and PRNP gene mutation.Conclusion The first autosomal dominant pedigree of family prion disease is found in China with G114V mutation in PRNP gene which may lead to the prion disease directly.