A case of a 60-year-old man with biopsy-proven diffuse Lewy body disease was presented with clinical and serial neuropsychological data. Findings showed a rapid decline over a 2-year period characterized by an atypical degenerative dementia, including a global mental decline with preserved orientation, profound perceptual deficits, and no specific relative progressive memory impairment. Few ext...

UNLABELLED Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. METHOD The series comprises 167 SCA3 patients belonging to 68 pedigrees, studied from 1989-2013. Th...

Abstract Introduction Approved therapeutics for bipolar depression are associated with a range of undesirable side effects. Lumateperone (LUMA), mechanistically novel antipsychotic that simultaneously modulates serotonin, dopamine, and glutamate neurotransmission, is FDA-approved the treatment schizophrenia depressive episodes I or II disorder. The efficacy LUMA in was previously established tw...

In children, Mycoplasma pneumoniae encephalitis has been characterized by acute onset of an encephalopathy associated with extrapyramidal symptoms and symmetric basal ganglia with or without brain stem involvement on magnetic resonance imaging. Our case, showing unilateral optic neuritis, ophthalmoplegia, no extrapyramidal symptoms, and typical striatal involvement on magnetic resonance imaging...

Parkinson's disease is a disorder of the extrapyramidal system. Other diseases causing extrapyramidal disorders, with the exception of Parkinson’s disease, are called atypical parkinsonism or parkinsonism plus. These diseases include: multiple system atrophy, MSA; progressive supranuclear palsy, PSP; corticobasal degeneration, CBD; dementia with Lewy bodies, DLB. Their diagnosis, especially in ...

Pantothenate kinase-associated neurodegeneration (PKAN) is a familial or sporadic disease characterized by extrapyramidal and corticospinal signs with dementia. Patients show iron accumulation in the basal ganglia, with neuronal loss and gliosis. A mutation of pantothenate kinase (PANK2) gene localized on chromosome 20p13 has been described in familiar forms, as well as in sporadic patients. We...

The patient was a 74-year-old man who developed gait and bulbar disturbances, which progressed for several years. His mother and a sister complained of a similar disturbance. On admission, generalized muscle atrophy and weakness were prominent, especially in the distal portions of the legs, with bulbar involvement. The patellar tendon reflexes were retained and the Achilles tendon reflexes were...

l-2-Hydroxyglutaric (l-2-HG) aciduria is a rare inherited metabolic disease usually observed in children. Patients present a very slowly progressive deterioration with cerebellar ataxia, mild or severe mental retardation, and various other clinical signs including extrapyramidal and pyramidal symptoms, and seizures Goffette et al. [1]. This leukencephalopathy was first described in 1980 Duran e...

Methods We describe a 15,5 y old girl presented with fever and abdominal pain in June 2009. Patient had numerous scleronodous skin lesions, developed 20 months ago, treated as localized scleroderma in another center. She rapidly developed malar rash, periungval erythema, extreme conjunctival injection, photophobia, soft palate erosions, pericardial effusion, mild vaginal bleeding, intraarticula...

An abnormal hyperechogenecity of substantia nigra is thought to be the most characteristic sonographic feature in Parkinson's disease (PD). However specificity and sensitivity of the ultrasound method should be refined. Using transcranial sonography, authors have examined 168 patients with different clinical signs of parkinsonism, including 99 patients with idiopathic PD, and 56 patients withou...