Clonidine GH stimulation test to differentiate MSA from idiopathic late onset cerebellar ataxia: a prospective, controlled study

AbstractIntroductionDespite the consensus criteria for multiple system atrophy (MSA), the diagnosis of MSA of cerebellar type (MSA-C) may be difficult in the early stage of the disease. There are several differential diagnoses including idiopathic late-onset cerebellar ataxias (ILOCA) and it is often necessary to wait for clinical worsening so that the criteria can be met. Our aim was to assess the efficacy of clonidine growth hormone test (CGH test) to distinguish MSA-C from ILOCA in the early stage of the disease.MethodsWithin our cohort of late-onset sporadic, progressive cerebellar ataxia, the group of patients meeting the criteria for possible or probable MSA was compared to the ILOCA group. Clinical and paraclinical examination including CGH test were repeated during the prospective follow-up.ResultsEighty-six patients were recruited, including 42 patients in the MSA group and 44 ILOCA patients with a mean follow-up of 33  months. At the inclusion visit, CHG test was pathological for 31% MSA of patients and 18.2% of ILOCA patients (p = 0.35). During the follow-up, 52.4% of MSA-C had a pathological CGH test, while only 20.5% of ILOCA (p 
Source: Journal of Neurology - Category: Neurology Source Type: research

Related Links:

AbstractCerebellar ataxias (CAs) represent a heterogeneous group of sporadic or inherited disorders. The clinical spectrum of CAs is continuously expanding. Our understanding of the mechanisms leading to the clinical deficits has improved over these last decades, in particular thanks to progress in genetics, neuroimaging and the advent of relevant animal models allowing the identification of the pathophysiological pathways leading to CAs. The rationale behind treatments is now established for most of the CAs encountered during daily practice worldwide. In this update, we will discuss the symptomatic, physical and occupatio...
Source: Journal of Neurology - Category: Neurology Source Type: research
AbstractAnti ‐nodal/paranodal antibodies have been reported in human demyelinating disorders. Anti‐nodal protein antibodies, namely, anti‐neurofascin (NF) 186 antibodies and antibodies against paranodal proteins, such as NF155, contactin 1 (CNTN1), and contactin‐associated protein 1 (CASPR1), are found i n subsets of chronic inflammatory demyelinating polyneuropathy (CIDP). In particular, CIDP patients with IgG4 anti‐NF155 antibodies and those with IgG4 anti‐CNTN1 antibodies commonly show sensory ataxia, severe demyelination on nerve conduction studies, very high cerebrospinal (CSF) protein leve ls and poor res...
Source: Clinical and Experimental Neuroimmunology - Category: Neurology Authors: Tags: REVIEW ARTICLE Source Type: research
The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal ...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
We examined NPC1-patients (NPC1-P), clinically asymptomatic NPC1-mutation carriers (NPC1-MC), and healthy controls (HC) to (1) identify retinal degeneration in NPC1-disease and (2) to investigate possible subclinical retinal degeneration in NPC1-MC.MethodsFourteen NPC1-P, 17 NPC1-MC, and 31 age-matched HC were examined using spectral-domain OCT. Neurological examinations, clinical scales [modified Disability Rating Scale (mDRS); Scale for the Rating and Assessment of Ataxia (SARA); Spinocerebellar Ataxia Functional Index (SCAFI)], and video-oculography (VOG) were correlated with OCT data.ResultsMacular retinal nerve fiber ...
Source: Journal of Neurology - Category: Neurology Source Type: research
Creutzfeldt-Jakob disease (CJD) is a prion disease characterized by rapidly progressive dementia that is often followed by behavioral disturbances, ataxia, myoclonus, and akinetic mutism. The initial symptoms of CJD reportedly vary, but the onset is usually gradual. Here, we report a case of CJD with a sudden, stroke-like onset of right hemiparesis to alert readers that CJD can mimic a stroke during its early stage.
Source: Journal of Stroke and Cerebrovascular Diseases - Category: Neurology Authors: Tags: Case Report Source Type: research
Conclusion: These observations suggest that early onset colorectal cancer and AML may be related diseases.
Source: American Journal of Clinical Oncology - Category: Cancer & Oncology Tags: Original Articles: Gastrointestinal Source Type: research
Abstract Genetic and epigenetic profile changes associated with individual radiation sensitivity are well documented and have led to enhanced understanding of the mechanisms of the radiation-induced DNA damage response. However, the search continues to identify reliable biomarkers of individual radiation sensitivity. Herein, we report on a multi-biomarker approach using traditional cytogenetic biomarkers, DNA damage biomarkers and transcriptional microRNA (miR) biomarkers coupled with their potential gene targets to identify radiosensitivity in ataxia-telangiectasia mutated (ATM)-deficient lymphoblastoid cell line...
Source: Radiation Research - Category: Physics Authors: Tags: Radiat Res Source Type: research
Abstract Structural Maintenance of Chromosomes (SMCs) are part of a large family of ring complexes that participates in a number of DNA transactions. Among SMCs, SMC1A gene is unique. It encodes a subunit of the cohesin-core complex that tethers sister chromatids together to ensure correct chromosome segregation in both mitosis and meiosis. As a member of the cohesin ring, SMC1A takes part in gene transcription regulation and genome organization; and it participates in the DNA Damage Repair (DDR) pathway, being phosphorylated by Ataxia Telangiectasia Mutated (ATM) and Ataxia Telangiectasia and Rad3 Related (ATR) t...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
ConclusionsCollapse of the hemispheres can occur spontaneously in dogs with hydrocephalus internus. Removal of the haemorrhage can improve clinical signs.
Source: Irish Veterinary Journal - Category: Veterinary Research Source Type: research
The eye-of-the-tiger (EOT) is a neuroradiologic sign observed on T2-weighted sequences that refers to a central high signal intensity in the anteromedial aspect of both globus pallidus (GP) and a surrounding low signal intensity due to excess iron deposition. Combining T2 and susceptibility-weighted images (SWI) allows an optimal characterization of iron accumulation. The EOT sign is considered almost pathognomonic of pantothenate kinase-associated neurodegeneration (PKAN) [1].
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
More News: Ataxia | Brain | Clonidine | Hormones | Neurology | Study