The cellular prion protein PrP C confers susceptibility to transmissible spongiform encephalopathies, yet its normal function is unknown. Although PrP -deficient mice develop and live normally, expression of amino proximally truncated PrP C ( PrP) or of its structural homolog Doppel (Dpl) causes cerebellar degeneration that is prevented by coexpression of full-length PrP . We now report that mi...

We present a case report of patient with previously identified cerebral autosomal dominant arteriopathy subcortical infarcts and leukoencephalopathy (CADASIL), who was admitted due to coronavirus disease 2019 (COVID-19), confirmed by polymerase chain reaction computed tomography. Examination treatment these patients presents certain difficulties the large number thromboembolic complications cau...

A 32-year-old man with an atypical form of reversible leukoencephalopathy syndrome (RPLS) caused by thrombotic thrombocytopenic purpura (TTP) is reported. In this particular case, a timely diagnosis of TTP was established primarily on the clinical findings, which led to the early initiation of plasmapheresis and resulted in excellent clinical recovery. The pathophysiological aspects of the rela...

Vanishing white matter disease (VWM, OMIM #306896) is an autosomal recessive leukoencephalopathy typically of childhood onset. Patients usually present with progressive cerebellar ataxia and spasticity. MRI shows a diffuse leukoencephalopathy. Part of the abnormal cerebral white matter has the signal intensity of CSF on all pulse sequences, reflecting progressive disappearance of white matter, ...

Methotrexate may cause seizures, dementia, and leukoencephalopathy when given in toxic doses to children with leukemia or solid tumors. Even in therapeutic doses, treatment with this drug is associated with an increased incidence of seizures in children with leukemia. To study mechanisms of injury, juvenile rats were given multiple intraventricular injections of methotrexate and the brains were...

The present study enrolled a Chinese family that comprised 34 members and spanned three generations. Eight members were diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and disease diagnoses corresponded with autosomal incomplete dominance inheritance. The primary clinical manifestations included paralysis, dysarthria, and mild cognitive...

T2-family acidic endoribonucleases are represented in all genomes. A physiological role for RNase T2 has yet to be defined for metazoa. RNASET2 mutation in humans is linked with a leukoencephalopathy that arises in infancy characterized by cortical cysts and multifocal white matter lesions. We now show localization of RNASET2 within lysosomes. Further, we demonstrate that loss of rnaset2 in mut...

Parkinsonism in SLE is rare. Diffuse leukoencephalopathy is equally uncommon and is associated with a poor prognosis. We present a single case of a 50-year-old Filipino man who presented with a generalized discoid rash after starting lisinopril. The rash persisted despite discontinuation of lisinopril, and over the next three months, he developed rapidly progressive parkinsonism. Brain MRI show...

Dimitri Renard, MD Helene Bonnaure, MD Pierre Labauge, MD, PhD A 46-year-old woman with a history of seizures, migraine, diabetes mellitus, and neurosensory hearing loss presented with progressive gait unsteadiness. Her mother had the same clinical features. Examination revealed short stature, cognitive deficit, and ataxia. Brain MRI showed diffuse atrophy and posterior leukoencephalopathy (fig...

DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a potentially life-threatening syndrome, which reflects a serious hypersensitivity reaction to drugs, presenting by generalized skin rash, fever, eosinophilia, atypical lymphocytosis, and internal organ involvement. Herein a 21-month old male infant with DRESS and Encephalopathy syndrome is presented who complicated after phe...