No abstract available.
Molecular Biology* ; Neurodegenerative Diseases*

No abstract available.
Gastrostomy* ; Neurodegenerative Diseases*

Introduction: Leigh disease and Leigh-like syndrome are a heterogenous group of neurodegenerative disorders involving any level of the neuraxis and may present with a variety of clinical presentations, prominent among them is psychomotor regression. Despite the remarkable number of established disease genes and novel mutations being discovered, many cases of Leigh syndrome remain without a genetic diagnosis, indicating that there are still more disease genes to be identified. Case: Here we present a case of a two and a half-year-old girl who presented with delayed acquisition of developmental milestones with subsequent regression, ataxia, and dyskinesia. Her work-up showed raised blood lactate levels and lactate peak in MR spectroscopy. Mitochondria genome showed absence of mitochondrial DNA mutation, while whole exome sequence analysis revealed a novel dynein gene variant, p.A1577S. Her parents underwent genetic testing as well, and her father also had the same dynein mutation, however, is non-symptomatic. She had an older brother who initially presented with ophthalmoplegia and eventually developed psychomotor regression. He subsequently expired from respiratory failure after almost 2 years from initial presentation. Both siblings were diagnosed with Leigh syndrome. Conclusion The diagnosis of Leigh syndrome remains based on characteristic clinical and radiologic findings. However, a specific defect must be identified if reliable genetic counseling is to be provided.
Neurodegenerative Diseases|leigh Disease

BACKGROUND: Cardiovascular autonomic dysfunction is one of the most frequent non-motor symptoms in idiopathic Parkinson disease (IPD). Several cardiovascular autonomic indexes (CAIs) have been reported to represent the degree of autonomic dysfunction in various neurodegenerative diseases. However, quantitative assessment by autonomic function tests in IPD has not been fully evaluated yet. The aim of this study is to investigate the usefulness of the quantitative autonomic test for detecting subclinical cardiovascular autonomic dysfunction and their correlation to the clinical severity of motor symptoms in IPD. METHODS: Four parasympathetic and sympathetic indexes during cardiovascular autonomic tests were compared between patients with IPD (n=31, age=65.8+/-9.14, Hoen&Yahr (H&Y) stage=2.1+/-0.68) and age matched healthy controls (n=30, age=63.2+/-7.56). Parasympathetic indexes include expiration:inspiration ratio (E:I ratio), valsalva ratio, 30:15 ratio, and vagal barosensitivity. Sympathetic indexes are pressure recovery time, sympathetic index 1, sympathetic index 3 and adrenergic baroseneitivity. To demonstrate the correlation between severity of clinical motor symptoms and the autonomic abnormality, we also compared the H&Y stage and the abnormalities of those CAIs. RESULTS: E:I ratio (p=0.009) and Valsalva ratio (VR) (p<0.001) were significantly different between IPD and control groups. Among the parameters, E:I ratio (r=-0.466, p=0.005) showed significant negative correlation with severity of clinical motor symptoms in IPD (H&Y< or =3). CONCLUSIONS: Among the CAIs, E:I ratio, VR are useful in detecting subclinical autonomic cardiovascular dysfunction in IPD. E:I ratio may be the possible evaluation method revealing the severity of clinical motor symptoms in IPD.
Humans ; Neurodegenerative Diseases ; Parkinson Disease*

Background: Creutzfeldt-Jakob disease is a rapidly progressive, fatal, transmissible neurodegenerative disorder caused by a prion protein. It is characterized by cognitive decline, motor dysfunction, and eventually, death. It occurs globally with 1 case per one million population/year. And It is still considered rare in countries like the Philippines due to challenges in its diagnosis and the under recognition of its clinical features. As of now, the local prevalence or incidence of this disease in our country remains unknown, as only a single case report has been documented. As of now, the local prevalence or incidence of this disease in our country remains unknown, as only a single case report has been documented. Objective: To report a series of patients with probable sporadic CJD from a tertiary hospital in the Philippines. Materials and Methods: Patients with rapidly developing dementia fulfilling the diagnostic criteria for sCJD were included. All were investigated in detail to find out any possible treatable cause, including electroencephalography (EEG), magnetic resonance imaging (MRI) of the brain, and cerebrospinal fluid analysis. Results: A total of 3 patients with probable sCJD were diagnosed using the European diagnostic criterion from January 2022 to April 2023. The clinical features are consistent with other reported series. All 3 patients had the classical EEG findings, typical MRI features, and positive for 14-3-3 assay, and one was positive for RT-QuIC. Two patients died within 13 months from the disease onset. Conclusion This is the first reported case series of probable sCJD in the Philippines from a tertiary hospital in Metro Manila. Like in our patients, this disease should be considered in individuals with rapidly progressive dementia associated with myoclonus, neuropsychiatric symptoms, akinetic mutism, visual abnormality, and ataxia with signs of pyramidal and extra-pyramidal dysfunction. Although a definitive diagnosis must be histopathological, there are ancillary tests that are currently available that allow us to make a probable diagnosis of sCJD possible. Our study raises question about the prevalence of this disease in the Philippines which needs more validated studies from other parts of the country.
Creutzfeldt-Jakob Syndrome ; Neurodegenerative Diseases

No abstract available.
Humans ; Neurodegenerative Diseases/*drug therapy/*etiology

Extended treatment using specific medicines for Parkinson's disease (PD) or psychotic disorders often induces symptoms related to psychotic disorders or PD, respectively. PD is the second most common neurodegenerative disease. Most cases of PD occur sporadically, but approximately 5-10% of cases are inherited as familial PD (FPD). Identification of the genes responsible for FPD, as well as their function, is essential to clarify the pathogenic mechanism of PD. Recent genomic analyses using samples obtained from patients with FPD have mapped 13 PARK loci and have identified SNCA, LRRK2, parkin, PINK1, DJ-1, ATP13A2 and UCHL1 as genes causing PD in those loci. This review discusses the results of recent studies on these PD genes.
Humans ; Neurodegenerative Diseases ; Parkinson Disease ; Psychotic Disorders

OBJECTIVES: Obsessive-compulsive(OC) symptoms have yet to be directly studied in neurodegenerative conditions involving behavioral changes. To examine regional abnormalities in the brains of dementia patients with OC symptoms, we assessed the gray matter density using voxel-based morphometry(VBM). METHODS: We performed brain magnetic resonance imaging(MRI) with VBM analysis in 106 dementia patients with OC behaviors. In this study, OC behaviors were investigated in patients with neurodegenerative disease using the modified Manchester Behavior Questionnaire. RESULTS: The OC behavior scores were correlated with structural brain volume using VBM. The total OC symptom score correlated negatively with the volume of both putamens, the right middle orbitofrontal gyrus, both anterior cingulate cortices, and the left insula(p<0.001, uncorrected). No gray matter reductions were associated specifically with the OC symptom sub-categories. CONCLUSIONS: Our results suggest that abnormalities in these brain regions may play an important role in the pathophysiology of OCD in neurodegenerative disease. This is the first lesion study to investigate the neural basis of OCD behaviors in neurodegenerative disease.
Brain ; Dementia ; Humans ; Neurodegenerative Diseases* ; Putamen ; Questionnaires

PURPOSE: The purpose of this study was to investigate the microstructural changes according to aging on the thickness and signal intensity (SI) of the cortical gray matter (GM) and white matter (WM) on the T2-, fluid-attenuated inversion recovery (FLAIR) and T1-weighted MR images in normal subjects. MATERIALS AND METHODS: The 10, 20, 30, 40, 50, 60, 70, 80 and 90 year age groups of men and women (each 10 individuals) who underwent routine brain MRI, including the T2-, FLAIR and T1-weighted images, were selected for this study. We measured the thickness and the SI of the cortical GM and WM at the postcentral gyrus, which has an even thickness at the level of centrum semiovale, on the axial scans and we calculated the mean values of the thickness ratio of the gray/white matter (TRGW) and the signal intensity ratio of the gray/white matter (SRGW), and we compared the ratios of each age group. RESULTS: On the T2-weighted images, the TRGWs were 0.81 and 0.79 at the age of 10 and they were 0.73 and 0.71 at the age of 90 in the men and women, respectively. So, the GM thickness was decreased more than the WM thickness was with aging. On the FLAIR images, the TRGWs were 1.09 and 1.00 at the age of 10 and they were 1.11 and 0.95 at the age of 70 in the men and women, respectively. On the T1-weighted images, the TRGWs were 0.66 and 0.80 at the age of 10, and the ratio was changed to 0.90 and 0.78 at the age of 90 in the men and women, respectively. On the T2-weighted image, the SRGWs were 1.53 and 1.43 at the age of 10, and they were 1.23 and 1.27 at the age of 90 in the men and women, respectively. On the FLAIR images, the SRGWs were 1.23 and 1.25 at the age of 10 and they were 1.06 and 1.05 at the age of 90 in the men and women, respectively. On the T1-weighted images, the SRGWs were 0.86 and 0.85 at the age of 10, and they were 0.90 and 0.87 at the age of 90 in the men and women, respectively. CONCLUSION: We suggest that the age-related microstructural changes of the thickness and the SI of the cortical GM and WM on the T2-, FLAIR and T1-weighted images are unique, and so this knowledge will be helpful to differentiate neurodegenerative disease from normal aging of the brain.
Aging ; Brain ; Female ; Humans ; Male ; Neurodegenerative Diseases

PURPOSE: The purpose of this study was to investigate the microstructural changes according to aging on the thickness and signal intensity (SI) of the cortical gray matter (GM) and white matter (WM) on the T2-, fluid-attenuated inversion recovery (FLAIR) and T1-weighted MR images in normal subjects. MATERIALS AND METHODS: The 10, 20, 30, 40, 50, 60, 70, 80 and 90 year age groups of men and women (each 10 individuals) who underwent routine brain MRI, including the T2-, FLAIR and T1-weighted images, were selected for this study. We measured the thickness and the SI of the cortical GM and WM at the postcentral gyrus, which has an even thickness at the level of centrum semiovale, on the axial scans and we calculated the mean values of the thickness ratio of the gray/white matter (TRGW) and the signal intensity ratio of the gray/white matter (SRGW), and we compared the ratios of each age group. RESULTS: On the T2-weighted images, the TRGWs were 0.81 and 0.79 at the age of 10 and they were 0.73 and 0.71 at the age of 90 in the men and women, respectively. So, the GM thickness was decreased more than the WM thickness was with aging. On the FLAIR images, the TRGWs were 1.09 and 1.00 at the age of 10 and they were 1.11 and 0.95 at the age of 70 in the men and women, respectively. On the T1-weighted images, the TRGWs were 0.66 and 0.80 at the age of 10, and the ratio was changed to 0.90 and 0.78 at the age of 90 in the men and women, respectively. On the T2-weighted image, the SRGWs were 1.53 and 1.43 at the age of 10, and they were 1.23 and 1.27 at the age of 90 in the men and women, respectively. On the FLAIR images, the SRGWs were 1.23 and 1.25 at the age of 10 and they were 1.06 and 1.05 at the age of 90 in the men and women, respectively. On the T1-weighted images, the SRGWs were 0.86 and 0.85 at the age of 10, and they were 0.90 and 0.87 at the age of 90 in the men and women, respectively. CONCLUSION: We suggest that the age-related microstructural changes of the thickness and the SI of the cortical GM and WM on the T2-, FLAIR and T1-weighted images are unique, and so this knowledge will be helpful to differentiate neurodegenerative disease from normal aging of the brain.
Aging ; Brain ; Female ; Humans ; Male ; Neurodegenerative Diseases