Comparison Study of Polysomnographic Features in Multiple System Atrophy-cerebellar Types Combined with and without Rapid Eye Movement Sleep Behavior Disorder.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

[The clinical and magnetic resonance imaging studies of brain damages in neuromyelitis optica].

OBJECTIVE: To investigate the feature brain damage and clinical manifestations in neuromyelitis optica (NMO) patients; To investigate the relationship between serum NMO-IgG antibody and NMO brain damage. METHODS: Clinical data of 37 NMO patients and their head and spinal cord MRI by 1.5T superconducting MR scanner, were analyzed; serum NMO-IgG antibody were measured by immunofluorescence. RESULTS: 17 cases were found to have abnormal signals on MRI, which were mainly in the white matter, pons, medulla, ventricle, aqueduct, and around the corpus callosum; According to pathological changes, brain damage can be divided into scattered irregularity (13 cases), fusion (3 cases), multiple sclerosis-like (1 case), with scattered irregularity more common, 5 cases had clinical manifestations of brain damage: somnolence, vomiting, diplopia, visual rotation, 11 cases patients with brainstem damage show positive serum NMO-IgG antibodies. CONCLUSIONS: Brain damage can be seen in half of NMO patients, they often located in the high expression area of AQP4: brain white matter, periventricular, brainstem and so on. Clinical symptoms has nothing to do with the size of lesions but the location, they often occur when brainstem was involved. Serum NMO-IgG is helpful in differentiating NMO with brain damage and MS.

[The early diagnosis of juvenile germinoma originating from the basal ganglia and thalamus].

OBJECTIVE: To explore the early diagnosis of germinoma originating from the basal ganglia (BG) and thalamus during juveniles. METHODS: Retrospective analysis was done with the clinical cases of germinomas in BG and thalamus from 2000 to 2009. The symptoms, signs, neuroimaging, cerebrospinal fluid (CSF) findings were analyzed and related literature were reviewed. RESULTS: Eight patents were collected. The main symptoms were hemiplegia, associated with aphasia and/or impaired cognition. Brain CT showed high density and calcification. Abnormal T1 and T2 signal were found in brain MRI frequently associated with ipsilateral hemisphere atrophy. MRS showed increased choline and decreased N-acetylaspartate level. Elevated CSF human chorionic gonadotrophin level were found in two of them. CONCLUSIONS: Germinoma in BG and thalamus predominates in a boy. The neuroimaging features are very informative for early diagnosis.

[Comparison of three anti-aquaporin 4 antibody detection methods in neuromyelitis optical].

OBJECTIVE: To evaluate three methods of detecting anti-aquaporin 4(AQP4) antibody in neuromyelitis optical(NMO), including indirect immunofluorescence assay organization (IIF), cell immunofluorescence method (CBA) and ELISA. METHODS: The patients were divided into NMO group (n = 29), multiple sclerosis (MS) group (n = 23), and healthy controls group (n = 50). IIF, CBA and ELISA were used in 3 groups to detect serum anti-AQP4 antibody. The sensitivity and specificity as well as the consistency of positive results were compared. RESULTS: In the aspect of the sensitivity of the three anti-AQP4 antibody to diagnosis NMO, CBA (72.4%) > IIF (62.1%) > ELISA (51.7%); in the aspect of specificity, CBA (100.0%) > ELISA (98.6%) > IIF (97.3%). Kappa testing and evaluation method showed that the three detection methods were all in good consistency, particular in CBA and ELISA (P < 0.01). CONCLUSIONS: CBA method showed a highest specificity and sensitivity in all these three anti-AQP4 antibody detection methods. CBA and ELISA are in better consistency of positive results.

[The neurological manifestations of chronic mercury poisoning].

OBJECTIVE: To analyze the neurological manifestations of chronic mercury poisoning for the improvement of clinical understanding of this disease. METHODS: The clinical data of 8 cases diagnosed as chronic mercury poisoning admitted in the department of neurology of Xuanwu hospital during the past 5 years were collected and analysed. RESULTS: Neurological manifestations of chronic mercury poisoning involved psychological problems, sleep disorders, ataxia, extremities weakness and atrophy, tremor, peripheral neuropathy and paresthesia. CONCLUSIONS: There are various kinds of neurological manifestations of chronic mercury poisoning. Identification of these manifestations in clinical practice and early diagnosis are beneficial for the relief of pains in the patients.

[Neuromyelitis optica IgG and related clinical features of patients with neuromyelitis optica].

OBJECTIVE: To investigate the differential diagnostic value of NMO-IgG for neuromyelitis optica (NMO) versus multiple sclerosis (MS) and to analyze its possible clinical features related to NMO-IgG. METHODS: Forty-one NMO patients and 44 MS patients in acute phase and 40 healthy controls were investigated. Serum NMO-IgG was tested by indirect immunofluorescence assay. The disability severity in NMO and MS patients was assessed by Expanded Disability Status Scale (EDSS). Clinical features and MRI imaging profiles were analyzed between NMO-IgG positive patients and negative ones. RESULTS: 70.7% (29/41) NMO patients were NMO-IgG positive compared to 9.1% (4/44) MS patients and all healthy controls were NMO-IgG negative (P < 0.01). The sensitivity and specificity were 70.7% and 90.9% respectively when NMO-IgG was used to discriminate NMO from MS. NMO patients with positive NMO-IgG had significantly higher EDSS scores (P < 0.05). More NMO-IgG seropositive patients had longitudinally extensive cord lesions (≥ 3 segments) than the NMO-IgG seronegative patients (93.1% vs 66.7%). But the difference was insignificant. CONCLUSION: NMO-IgG is a specific biomarker of NMO. NMO-IgG can facilitate an early differentiation of NMO from MS. NMO-IgG seropositivity is related to graver symptoms and it may predict an aggravation.

[Construction and clinical application of lentivirus-AQP4 expressing vector].

OBJECTIVE: To construct the human aquaporin-4 (AQP4) expressing vector and detect anti-AQP4 antibody in serum of patients with neuromyelitis optica (NMO). METHODS: RNA was extracted from human glioblastoma and AQP4 cDNA obtained through RT-PCR.The fragment was cloned into the lentiviral expressing vector (iDUET101) and transformed into competent strain Hb101 for later amplification; plasmids were extracted from the amplified positive-bacteria-colony, sequenced and transfected into HEK-293T cells. Expression of AQP4 was identified by RT-PCR, Western blot and immunofluorescence assay. And anti-AQP4 antibody in human serum was tested. RESULTS: The sequence of target fragment matched with that of human AQP4 fragment sequences (NM_001650) completely. The constructed AQP4 fragment transfected in HEK-293T cell was tested by immunofluorescent examination and it exhibited obvious fluorescence located in cell membrane. Western blot test was positive. And the fragment was about 34 KD. Cellular immunofluorescence examination showed 11 examples of 12 NMO patient serums (91.7%) were positive, 4 in 34 multiple sclerosis (11.8%) positive and negative in all 50 serum samples of healthy controls. CONCLUSION: The HEK-293T cell transfected with lentivirus-AQP4 vector can express stably. And the expressed fragment may be applied in clinical examination.

[Neurological presentation of late-onset methylomalic aciduria].

OBJECTIVE: Late-onset methylomalic aciduria is hardly recognized and easily misdiagnosed. This study was aimed enhance the recognition of late-onset methylomalic aciduria. METHODS: The clinical data of 6 cases with late-onset methylomalic aciduria were analyzed and relevant literature was reviewed. RESULTS: Late-onset methymalonic aciduria was a group of clinically heterogeneous disease, presenting with acute or subacute encephalopathy involving also pyramidal tract, peripheral nerve and visual apparatus. Brain MRI may reveal cerebral atrophy and abnormal white matter signal. CONCLUSION: The diagnosis of methylomalic aciduria should be considered in patients with neurological symptoms and signs unexplained by common neurological diseases, especially presenting with pyramidal tract and/or peripheral nerve symptoms.

[A clinical analysis of methylmalonic acidemia in adolescents].

OBJECTIVE: To investigate the clinical characteristics of methylmalonic academia in adolescence cases. METHODS: 4 cases were diagnosed methylmalonic academia by gas chromatography- mass spectrogram whose clinical, manifestations and treatment process were analyzed. RESULTS: The main clinical manifestations in 4 cases with methylmalonic academia were intellect impairment, epilepsy, pyramid signs; 2 of them suffered with hypoplasia and optic atrophy, one of them suffered with papilledema. Symptoms were improved after treated with cobamamide and L-carnitine in all the 4 cases 1 months later. CONCLUSIONS: The main clinical characteristics of methylmalonic academia in adolescence were intellect impairment, epilepsy and pyramid signs. The symptoms could be improved after treatment.

Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series.

INTRODUCTION: Transmissible spongiform encephalopathies are a group of neurodegenerative diseases of humans and animals. Genetic Creutzfeldt-Jakob diseases, in which mutations in the PRNP gene predispose to disease by causing the expression of abnormal PrP protein, include familial Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. CASE PRESENTATION: A 47-year-old Han-Chinese woman was hospitalized with a 2-year history of progressive dementia, tiredness, lethargy and mild difficulty in falling asleep. On neurological examination, there was severe apathy, spontaneous myoclonus of the lower limbs, generalized hyperreflexia and bilateral Babinski signs. A missense mutation (T to G) was identified at the position of nt 341 in one PRNP allele, leading to a change from glycine (Gly) to valine (Val) at codon 114. PK-resistant PrPSc was detected in brain tissues by Western blotting and immunohistochemical assays. Information on pedigree was collected notably by interviews with family members. A further four suspected patients in five consecutive generations of the family have been identified. One of them was hospitalized for progressive memory impairment at the age of 32. On examination, he had impairment of memory, calculation and comprehension, mild ataxia of the limbs, tremor and a left Babinski sign. He is still alive. CONCLUSION: This family with G114V inherited prion disease is the first to be described in China and represents the second family worldwide in which this mutation has been identified. Three other suspected cases have been retrospectively identified in this family, and a further case with suggestive clinical manifestations has been shown by gene sequencing to have the causal mutation.

[A clinical research of hirayama disease].

OBJECTIVE: To summarize and analyze the clinical features of Hirayama disease. METHODS: The authors summarized the clinical data of 29 cases of Hirayama disease in recent 9 years. RESULTS: All of the 29 cases were male and the age of onset was 12 - 25 years. 22 of the 29 patients only had the symptoms of one upper limb and 7 of them had symptoms of both upper limbs. Most of them had symptoms on the right or the symptoms were on more severe in the right than left, while only one case had symmetric symptoms of both upper limbs. The arm appeared as a slope, this was due to partial muscular atrophy. EMG indicated that the impairment of spinal anterior cells were limited to the arm relevant segments and both sides were involved. Cervical MRI scan suggested spinal atrophy at the level of C(5 - 7) vertebral bodies, being asymmetric in most of the cases. The atrophy was more obvious on the side with more severe symptoms. There was one patient whose MRI showed high T(2) signal in the spinal anterior cells of the C(5 - 6) segments. All the cases used cervical supporter and were followed up for 1 - 5 years. All of them had good prognosis. CONCLUSIONS: Hirayama disease is more common in men with hidden onset before 20 years of age. Most of the patients noted the symptoms of hands gradually about 2 years after a period of rapid growth in height in adolescence. The predominant clinical manifestations are as follows: atrophy of lower cervical cord in cervical MRI, asymmetric spinal atrophy in horizontal impaction and the degree of atrophy consistent with the symptoms of limbs. EMG could indicate bilateral spinal anterior impairment in lower cervical cord. Rare case may present the abnormal signal in the spinal cord, but pyramid signs were absent.