Background: Paroxysmal movements in the form of tonic spasms, dystonia, choreoathetosis and hemidyskinesia have been reported in patient with multiple sclerosis (MS). Intracranial hypertension with headache and papilledema resembling idiopathic intracranial hypertension (IIH) exceptionally occurs in patient with MS. Conversely, IIH may rarely present as movement disorder in children. Aims of th...

Little information is available on the long-term course and adult outcome of patients with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. We describe the course of a 32-year-old woman with hypotonia, dystonia, choreoathetosis, mental retardation, behavioral disturbances, and incomplete puberty due to PTPS deficiency. From the age of 6 months she developed progressive hypotonia and chor...

Paroxysmal kinesigenic choreoathetosis (PKC) is an inherited disease of the nervous system. We previously identified PRRT2 as the causative gene of PKC. However, as little is known about the function of PRRT2, elucidating its function will benefit not only PKC studies, but also many other related disorders. Here, we reveal higher levels of glutamate in the plasma of PKC patients and the culture...

turing of the left upper extremity. The dystonic posture of the left upper extremity caused levitation of the arm with flexed fingers and an extended wrist. Stimulussensitive generalized myoclonic jerks were Dear Sir, Creutzfeld-Jakob disease (CJD) is a progressive spongiform encephalopathy that is mainly characterized by rapidly progressive dementia, myoclonus, ataxia, epilepsia partialis cont...

BACKGROUND TNR encodes Tenascin-R, an extracellular matrix glycoprotein that is primarily expressed in the central nervous system. Loss of TNR impairs cognition, synaptic plasticity and motor abilities in mice, however its role in human neurodevelopment and cognition is less clear. METHODS AND RESULTS The authors present the case of a child with intellectual disability and transient choreoath...

Case presentation: D.H.S., male, 23 months, non-consanguineous parents, born at term, pregnancy and delivery without complications, healthy 7-year-old brother, no cases of epilepsy or developmental delay in the family. From birth he had difficulty breastfeeding hypotonia, 3 months started episodes behavioral arrest, 9 lip cyanosis, hypertonia four limbs lasting less than one minute post-ictal w...

Despite a long history, Wilson’s disease, an autosomal recessive disease caused by mutations in the ATP7B gene, remains a commonly misdiagnosed import disease. Mutations in ATP7B result in abnormal copper metabolism and subsequent toxic accumulation of copper. Clinical manifestations of neurologic Wilson’s disease include variable combinations of dysarthria, dystonia, tremor, and choreoathetosi...

Ataxia Telangiectasia (AT) is a rare worldwide disease inherited as autosomal recessive with a poor prognosis in its classical form. It is characterized by neurological impairment (progressive cerebellar ataxia, axonal peripheral neuropathy, oculomotor apraxia, and movement disorders such as dystonia, choreoathetosis, myoclonus, tremor, Parkinsonism), telangiectasias, recurrent sino pulmonary i...

Anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis is a newly recognized, potentially fatal, but treatable autoimmune disease. Good outcome predictors include milder severity of symptoms, no need for intensive care unit admission, early aggressive immunotherapy, and prompt tumor removal. We report a case of a young girl aged 3 years 2 months and diagnosed as recalcitrant anti-NMDA rece...