Search results for "parkinsonism"

Motor abnormalities and basal ganglia in first-episode psychosis (FEP)

2020

AbstractBackgroundMotor abnormalities (MAs) are the primary manifestations of schizophrenia. However, the extent to which MAs are related to alterations of subcortical structures remains understudied.MethodsWe aimed to investigate the associations of MAs and basal ganglia abnormalities in first-episode psychosis (FEP) and healthy controls. Magnetic resonance imaging was performed on 48 right-handed FEP and 23 age-, gender-, handedness-, and educational attainment-matched controls, to obtain basal ganglia shape analysis, diffusion tensor imaging techniques (fractional anisotropy and mean diffusivity), and relaxometry (R2*) to estimate iron load. A comprehensive motor battery was applied incl…

Seroquel (ICI 204 636), a putative "atypical" antipsychotic, in schizophrenia with positive symptomatology: results of an open clinical trial and cha…

1995

Preclinical data indicated that seroquel (ICI 204 636), a dibenzothiazepine with 5-HT2 and D2-like receptor antagonistic properties, might be an effective antipsychotic agent, causing fewer extrapyramidal side effects than typical neuroleptics. In the present study, 12 patients suffering from schizophrenia or schizophreniform disorder with predominantly positive symptomatology were treated in an open clinical trial for 4 weeks with seroquel at a maximum dosage of 750 mg/day. The drug was generally well tolerated, and virtually no adverse extrapyramidal side effects such as acute dystonia, parkinsonism or akathisia were observed. Total scores for BPRS (item score 0–6; baseline: 42.0±2.3; mea…

Elevated [18F]FDOPA utilization in the periaqueductal gray and medial nucleus accumbens of patients with early Parkinson's disease

2010

Udgivelsesdato: 2010-Feb-15 PET studies with the DOPA decarboxylase substrate 6-[(18)F]fluoro-l-DOPA (FDOPA) reveal the storage of [(18)F]-fluorodopamine within synaptic vesicles, mainly of dopamine fibres. As such, FDOPA PET is a sensitive indicator of the integrity of the nigrostriatal dopamine innervation. Nonetheless, there have been several reports of focal elevations of FDOPA utilization in brain of patients with Parkinson's disease (PD), all based on reference tissue methods. To investigate this phenomenon further, we used voxel-wise steady-state kinetic analysis to search for regions of elevated FDOPA utilization (K; ml g(-1) min(-1)) and steady-state trapping (V(d); ml g(-1)) in a …

Lenalidomide induced reversible parkinsonism, dystonia, and dementia in subclinical Creutzfeldt-Jakob disease

2018

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

2012

Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate homeostasis in the etiology of IBGC.

Neurological deficits like CVA, Trigeminal neuralgia, Post herpetic neuralgia, Meningitis, Cervical Myelopathy, Demyelinating Disease, Acoustic Neuro…

2018

Patients and methods. A total number of 35 patients with neurological deficits, like cerebrovascular accident (CVA), trigeminal neuralgia, post herpetic neuralgia, meningitis, cervical myelopathy, demyelinating disease, acoustic neuroma, muscular neuropathy and parkinsonism were treated with ozone therapy in our institution. Results. Group 1) Hemorrhagic - 6 patients Group 2) Ischemic - 29 Patients Both the groups showed improvement varying from 20% to 100%: • Hemorrhagic patients took more time for improvement as compare to ischemic group. • Hemorrhagic patients showed partial recovery. • Ischemic group showed almost 90% - 100% recovery. Patients who received ozone therapy after 12 months …

Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.

2022

Background Complex parkinsonism is the commonest phenotype in late-onset PLA2G6-associated neurodegeneration. Objectives The aim of this study was to deeply characterize phenogenotypically PLA2G6-related parkinsonism in the largest cohort ever reported. Methods We report 14 new cases of PLA2G6-related parkinsonism and perform a systematic literature review. Results PLA2G6-related parkinsonism shows a fairly distinct phenotype based on 86 cases from 68 pedigrees. Young onset (median age, 23.0 years) with parkinsonism/dystonia, gait/balance, and/or psychiatric/cognitive symptoms were common presenting features. Dystonia occurred in 69.4%, pyramidal signs in 77.2%, myoclonus in 65.2%, and cere…

Acute and reversible Pisa syndrome as unusual presentation of portosystemic encephalopathy

2020

Abstract We present the first case of acute and reversible Pisa Syndrome, as a clinical manifestation of a portosystemic encephalopathy bout occurring in a patient affected with cirrhosis and clinical-radiological signs of acquired hepatocerebral degeneration, without exposure to psychotropic medications. A 62 year-old man suffering from cirrhosis was admitted to our hospital for sudden onset of mild confusion and postural change. He was observed walking and standing with a tilt toward the right during the last two hours. On neurological examination, he showed bilateral asterixis and extrapyramidal signs. Clinical diagnosis of Pisa Syndrome was made in a setting of raised serum ammonia. A b…

A screening instrument for a Sicilian neuroepidemiological survey in the elderly.

2003

Abstract We evaluated the sensitivity and specificity of a screening instrument developed for use in a two-phase neuroepidemiological survey in Sicily. The Sicilian Epidemiological Dementia Study (SEDES) project will evaluate the prevalence and incidence of dementia, parkinsonisms and essential tremor in four Sicilian municipalities. It is a two-phase door-to-door survey. To identify subjects with possible neurological disorders, in this study, we developed a screening instrument including a symptoms questionnaire and simple physical tasks for parkinsonisms and essential tremor. The Mini-Mental State Examination (MMSE) was chosen for screening dementia. The symptoms questionnaire and simple…

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expans…

2019

Background Amyotrophic lateral sclerosis [1] is a genetically heterogeneous neurodegenerative disorder, characterized by late-onset degeneration of motor neurons leading to progressive limb and bulbar weakness, as well as of the respiratory muscles, which is the primary cause of disease fatality. To date, over 25 genes have been implicated as causative in ALS with C9orf72, SOD1, FUS, and TARDBP accounting for the majority of genetically positive cases. Results We identified two patients of Italian and French ancestry with a clinical diagnosis of juvenile-onset ALS who were mutation-negative in any of the known ALS causative genes. Starting with the index case, a consanguineous family of Ita…