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1.
Intern Med ; 61(19): 2947-2950, 2022 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-35228425

RESUMO

We herein report a 47-year-old man with autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A) revealed by periventricular radial linear enhancement on repeated brain magnetic resonance imaging (MRI). He presented with a history of headache and a fever followed by somnolence and worsening of consciousness. On admission (16 days from the onset), although lymphocytic pleocytosis and hypoglycorrhachia in the cerebrospinal fluid (CSF) were noted, initial brain MRI demonstrated non-specific findings. At 30 days from the onset, repeated brain MRI revealed characteristic findings of GFAP-A, and we detected anti-GFAP antibodies in the CSF. Thus, repeated brain MRI provides clues for the diagnosis of GFAP-A.


Assuntos
Astrócitos , Encéfalo , Astrócitos/patologia , Autoanticorpos , Encéfalo/diagnóstico por imagem , Encéfalo/metabolismo , Proteína Glial Fibrilar Ácida , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade
2.
eNeurologicalSci ; 27: 100395, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35295746

RESUMO

We report a 77-year-old woman with a thymoma, anti-LGI1antibody associated encephalitis (LGI1 encephalitis), and MG accompanied by positive anti-acetylcholine receptor antibodies (AchR Ab) and anti-titin antibodies (titin Ab). She was treated with thymomectomy followed by immunosuppressive therapy, which resulted in immediate amelioration of motor weakness and gradual improvement of cognitive impairment over the next two years. LGI1 Ab were positive at two months after thymomectomy, followed by negative conversion demonstrated on 1 year examination. The AchR Ab level had gradually decreased but titin Ab was positive on re-examination after two years, although the cognition and motor impairment symptoms had been alleviated. In patients with suspected autoimmune encephalitis, the detection of several autoantibodies including LGI1 and thymomas provides useful information for making an accurate diagnosis.

3.
Intern Med ; 60(24): 3969-3974, 2021 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-34121014

RESUMO

We herein describe a Charcot-Marie-Tooth disease (CMT) family with a MFN2 mutation with atypical ocular manifestations. The proband, his mother, his third daughter, and his deceased maternal grandfather all had symptoms of CMT and a visual impairment (either cataracts or severe astigmatism). On whole-exome sequencing for the proband having CMT and congenital cataracts, we identified a c.314C>T (p.Thr105Met) mutation in MFN2, but no mutation in the causative genes associated with cataracts. This missense mutation in MFN2 co-segregated with CMT and the atypical ocular manifestations in this family. The findings of this study might help to expand the clinical phenotype of heterogeneous MFN2-related CMT.


Assuntos
Doença de Charcot-Marie-Tooth , Doença de Charcot-Marie-Tooth/diagnóstico , Doença de Charcot-Marie-Tooth/genética , Feminino , GTP Fosfo-Hidrolases/genética , Humanos , Proteínas Mitocondriais/genética , Mães , Fenótipo
4.
J Clin Neurosci ; 87: 80-83, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33863540

RESUMO

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by slowly progressive cerebellar ataxia. Previously, autonomic symptoms or dysfunction have not been reported. To evaluate subclinical autonomic dysfunction regarding thermoregulatory function in SCA, we recorded sympathetic outflow to skin in a DRPLA patient confirmed by genetic analysis. We recorded skin sympathetic nerve activity (SSNA), which was elicited and recorded by using the microneurographical technique. In results, the resting frequency of SSNA bursts was very low (8.2 ± 0.4 bursts/min [institutional normal range: 20.8 ± 2.4 bursts/min]). However, acceleration of SSNA bursts induced by mental arithmetic stress was confirmed. The amplitude of reflex bursts induced by electrical stimuli was slightly low (9.6 ± 1.6 µV [institutional normal range: 10.9 ± 2.2 µV]), and the reflex latency was mildly prolonged (872 ± 23.7 msec [institutional normal range: 761.9 ± 51.7 msec]). These results suggest potentially central autonomic dysfunction in this patient with DRPLA. To our knowledge, this is the first report to record SSNA and confirm subclinical autonomic dysfunction in a case with DRPLA.


Assuntos
Fibras Adrenérgicas/fisiologia , Epilepsias Mioclônicas Progressivas/diagnóstico , Epilepsias Mioclônicas Progressivas/fisiopatologia , Condução Nervosa/fisiologia , Fenômenos Fisiológicos da Pele , Pele/inervação , Atrofia , Cerebelo/patologia , Estimulação Elétrica/métodos , Feminino , Humanos , Pessoa de Meia-Idade , Reflexo/fisiologia
5.
J Clin Hypertens (Greenwich) ; 23(1): 175-178, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33200853

RESUMO

This study evaluated yearly changes in systolic blood pressure (SBP), diastolic blood pressure (DBP), and heart rates (HR) for patients with Parkinson's disease (PD). Data were collected for the last 10 years from medical records of 28 PD patients and 30 non-PD patients with other neurological disorders. Age-related changes in each group were analyzed by year using mean values of SBP, DBP, and HR obtained at their bi-monthly visits. In results, PD patients had a gradual decrease in SBP with longer disease duration, and mean SBP significantly decreased from Year 7-11 compared to the mean values for Year 1 (p < .001 or p < .01). In non-PD patients, mean SBP significantly increased from Year 4-11 compared to the mean values for Year 1 (p < .001 or p < .01). This is the first study to report age-related changes of BP in individual patients with PD over 10 years.


Assuntos
Hipertensão , Doença de Parkinson , Pressão Sanguínea , Monitorização Ambulatorial da Pressão Arterial , Criança , Frequência Cardíaca , Humanos , Doença de Parkinson/epidemiologia
6.
Heliyon ; 6(12): e05600, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33313431

RESUMO

A 44-year-old female developed mild gait disturbance. She had a history of a ventricular septum defect, deafness, epilepsy, schizophrenia and cataracts. Magnetic resonance imaging showed ventriculomegaly of the brain and lower thoracic spinal stenosis due to ossification of the yellow ligament (OYL). She was diagnosed as having 22q11.2 deletion syndrome (22q11.2DS) by chromosome analysis, and OYL was suspected to be a secondary symptom due to hypoparathyroidism. This is the first report of 22q11.2DS with OYL and ventriculomegaly. Since the present patient was not diagnosed until adulthood, we emphasize that we should keep this common but heterogeneous congenital disease in mind.

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