adults - Cerebellum - VermisPrevious studies have reported cerebellar abnormalities or static ataxia associated with risk for chronic use of alcohol and drugs. Adverse childhood experience is another strong risk factor for later substance abuse. We therefore sought to ascertain the relationship ...
Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premu... Human postmortem FXTAS brains show extensive white matter disease in the cerebellum and the presence of intranuclear inclusions throughout the br...
A 5 yr old girl is reported with patchy white matter lesions, cystic degeneration of the temporal tips, normal cortex, and normal cerebellum, documented by FLAIR, and diffusion-weighted MRI. This condition differed from the entity megalencephalic leukoencephalopathy with cysts by lack of dif...
Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease. Ann Neurol 1998;43:288-96.Onodera O,Idezuka J,Igarashi S. Progressive atrophy of cerebellum and brainstem as a function of age and ...
Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, ataxia and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum). Homozygous deletion of Pten ...
Sample sizes of potential biomarkers were calculated.Compared with healthy controls, SCA3 patients had lower cerebellar volume and cervical spinal cord area. SCA3 patients evolved along a stage-independent decline that began in the cerebellum, progressed to spinal cord, brainstem, thalami, and basal ...
Mice homozygous for this deletion (Pter[sup loxP/loxP];Gfap-cre), developed seizures and ataxia by 9 wk and died by 29 wk. Histological analysis showed brain enlargement in Pter[sup loxP/loxP];Gfap-cre mice as a consequence of primary granule-cell dysplasia in the cerebellum and dentate ...
Mice homozygous for this deletion (PtenloxP/loxP;Gfap-cre), developed seizures and ataxia by 9 wk and died by 29 wk. Histological analysis showed brain enlargement in PtenloxP/loxP;Gfap-cre mice as a consequence of primary granule-cell dysplasia in the cerebellum and dentate gyrus. Pten ...