- Inhibition of PTEN activates bovine non-growing follicles in vitro but increases DNA damage and reduces DNA repair response. [Journal Article]
- HRHum Reprod 2018 Dec 06
- Does ovarian follicle activation by phosphatase homologue of chromosome-10 (PTEN) inhibition affect DNA damage and repair in bovine oocytes and granulosa cells?
Does ovarian follicle activation by phosphatase homologue of chromosome-10 (PTEN) inhibition affect DNA damage and repair in bovine oocytes and granulosa cells?
- Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare. [Journal Article]
- FCFront Cell Neurosci 2018; 12:443
- Friedreich ataxia is a multi-system autosomal recessive inherited disorder primarily caused by homozygous GAA repeat expansion mutations within intron 1 of the frataxin gene. The resulting deficiency...
Friedreich ataxia is a multi-system autosomal recessive inherited disorder primarily caused by homozygous GAA repeat expansion mutations within intron 1 of the frataxin gene. The resulting deficiency of frataxin protein leads to progressive mitochondrial dysfunction, oxidative stress, and cell death, with the main affected sites being the large sensory neurons of the dorsal root ganglia and the dentate nucleus of the cerebellum. The GAA repeat expansions may be pure (GAA)n in sequence or may be interrupted with regions of non-GAA sequence. To our knowledge, there has been no large-scale study of FRDA patient DNA samples to determine the frequency of large interruptions in GAA repeat expansions. Therefore, we have investigated a panel of 245 Friedreich ataxia patient and carrier DNA samples using GAA repeat PCR amplification and MboII restriction enzyme digestion. We demonstrate that the vast majority (97.8%) of Friedreich ataxia GAA repeat expansion samples do not contain significant sequence changes that would result in abnormal MboII digestion profiles, indicating that they are primarily pure GAA repeats. These results show for the first time that large interruptions in the GAA repeats are very rare.
- A Roberts Syndrome individual with differential genotoxin sensitivity and a DNA damage response defect. [Journal Article]
- IJInt J Radiat Oncol Biol Phys 2018 Nov 30
- CONCLUSIONS: in addition to its developmental features, RBS can be, like ataxia telangiectasia, considered a DNA damage response-defective syndrome, which contributes to its cellular, molecular and clinical phenotype.
- Molecular pathway analysis towards understanding tissue vulnerability in spinocerebellar ataxia type 1. [Journal Article]
- EElife 2018 Dec 03; 7
- The neurodegenerative disorder spinocerebellar ataxia type 1 (SCA1) affects the cerebellum and inferior olive, though previous research has focused primarily on the cerebellum. As a result, it is unk...
The neurodegenerative disorder spinocerebellar ataxia type 1 (SCA1) affects the cerebellum and inferior olive, though previous research has focused primarily on the cerebellum. As a result, it is unknown what molecular alterations are present in the inferior olive, and whether these changes are found in other affected tissues. This study addresses these questions for the first time using two different SCA1 mouse models. We found that differentially regulated genes in the inferior olive segregated into several biological pathways. Comparison of the inferior olive and cerebellum demonstrates that vulnerable tissues in SCA1 are not uniform in their gene expression changes, and express largely discrete but some commonly enriched biological pathways. Importantly, we also found that brain region-specific differences occur early in disease initiation and progression, and they are shared across the two mouse models of SCA1. This suggests different mechanisms of degeneration at work in the inferior olive and cerebellum.
- Brain metastasis and herniation in a patient with ampullary adenocarcinoma presenting with jaundice and memory loss: case report. [Journal Article]
- JGJ Gastrointest Oncol 2018; 9(5):871-874
- Periampullary carcinoma includes neoplasms arising from head of pancreas, distal common bile duct, duodenum and ampulla of Vater. We report a case of a 41-year-old male, medically free who presented ...
Periampullary carcinoma includes neoplasms arising from head of pancreas, distal common bile duct, duodenum and ampulla of Vater. We report a case of a 41-year-old male, medically free who presented to our hospital as a case of obstructive jaundice, weight loss, headache and blurred vision. Clinical evaluation revealed memory loss and ataxia. Endoscopic retrograde cholangiopancreatography (ERCP) was carried out and showed a mass in the ampullary area, histopathology showed ampullary adenocarcinoma. Metastatic work up was carried out which revealed two brain metastatic lesions and multiple intra-abdominal metastasis. We are reporting the third case of brain metastasis from ampullary adenocarcinoma. It metastasizes commonly intra-abdominally, but extra-abdominal metastases are rare yet it should be included in the differential diagnosis of patients with a history of ampullary carcinoma who present with neurological symptoms. There are no current specific management guidelines for brain metastasis secondary to ampullary adenocarcinoma, so general brain metastasis management is applicable.
- Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia. [Journal Article]
- NeurNeurology 2018 Nov 30
- CONCLUSIONS: This systematic study of the different motor abnormalities and their course over time in patients with mild phenotypes of A-T, enabled us to recognize 6 essentially different phenotypic patterns. Awareness of these different trajectories of motor abnormalities in milder forms of A-T will contribute to a reduction of diagnostic delay in this severe multisystem disorder.
- Bickerstaff Brainstem Encephalitis and overlapping Guillain-Barré syndrome in children: Report of two cases and review of the literature. [Review]
- EJEur J Paediatr Neurol 2018 Nov 20
- Bickerstaff Brainstem Encephalitis (BBE) is a rare autoimmune encephalitis, characterized by acute ophthalmoplegia, ataxia and altered state of consciousness. Together with Guillan-Barrè Syndrome (GB...
Bickerstaff Brainstem Encephalitis (BBE) is a rare autoimmune encephalitis, characterized by acute ophthalmoplegia, ataxia and altered state of consciousness. Together with Guillan-Barrè Syndrome (GBS) and Miller-Fisher Syndrome, it forms a spectrum of post-infectious demyelinating diseases. Overlapping forms between BBE and GBS (BBE/GBS) are described in patients with lower limbs weakness and typical signs of BBE, suggesting a combined involvement of Central and Peripheral Nervous System (PNS), but only few reported cases are focused on pediatric population. We reviewed all cases of pediatric BBE in the literature, to determine if any patient showed features suggestive for BBE/GBS. Data analysis focused on the diagnostic tests performed (e.g. anti-GQ1b antibodies), neuroimaging and nerve conduction studies (NCS). Further attention was given to the therapeutic management and to patients' outcome. We additionally present two previously unreported pediatric cases. Our review retrieved 19 cases of BBE/GBS, only 2 of which were originally and correctly diagnosed by the authors. The prevalence was higher in male subjects (ratio 3:1) and median age at diagnosis was 8 years. Anti-GQ1b were positive in 46% of the patients, while NCS were altered in 64%. Only 25% of the patients that underwent brain MRI showed abnormal findings. The incidence of BBE/GBS has been underrated in the past, mostly due to an underestimation of the PNS involvement. We therefore suggest to investigate all patients with a clinical picture suggestive of BBE/GBS through electroencephalogram, NCS, brain and spine MRI in order to promptly achieve the correct diagnosis.
- Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation. [Journal Article]
- JSJ Stroke Cerebrovasc Dis 2018 Nov 28
- PRRT2 gene mutations cause paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions, hemiplegic migraine, and episodic ataxia. A 21-year-old woman reported an episode of dizziness and ataxic ga...
PRRT2 gene mutations cause paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions, hemiplegic migraine, and episodic ataxia. A 21-year-old woman reported an episode of dizziness and ataxic gait occurring after swimming. Brain MRI showed a hyperintense cerebellar lesion on diffusion-weighted imaging (DWI) with decreased apparent diffusion coefficient. The clinical course was favorable. Both clinical and MRI abnormalities regressed. Her brother had presented PKD since adulthood. A C.649dupC PRRT2 truncating mutation was identified in both patients. To our knowledge, this is the first case of an acute cerebellar ataxia associated with heterozygous PRRT2 mutation and transient cerebellar hyperintensity on DWI. Among the clinical and genetic heterogeneities of familial paroxysmal disorders, PRRT2 mutation may be considered in patients with episodic cerebellar ataxia and diffusion restriction on neuroimaging.
- Fragile X-associated tremor ataxia syndrome and cognitive impairment. [Journal Article]
- ANAust N Z J Psychiatry 2018 Dec 02; :4867418814942
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- Superficial Siderosis of the Central Nervous System: Neurotological Findings Related to Magnetic Resonance Imaging. [Journal Article]
- ONOtol Neurotol 2018 Dec 03
- CONCLUSIONS: The MRI results with SWI were related to neurotological findings in patients suffering from sensorineural deafness with ataxia due to SS. Our findings support the integration of the SWI and 3D-CISS sequences into the MRI protocol for all patients referred for evaluation of the extent of SS.