Cerebellar Hypoplasia
Mostrando 1-12 de 14 artigos, teses e dissertações.
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1. A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)
Abstract A consanguineous Qatari family having an autosomal recessive disorder characterized by severe mental retardation, cerebellar vermis hypoplasia, retinal degeneration, optic nerve atrophy, ataxic gait, and seizures was studied for identification of the offending gene and mutation. Homozygosity mapping identified an 11.4 Mb critical interval at 4q12 to
J. inborn errors metab. screen.. Publicado em: 15/07/2019
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2. Congenital hidranencephaly and cerebellar hypoplasia in water buffaloes / Hidranencefalia e hipoplasia cerebelar congênita em búfalos Murrah
Hereditary hydrancephaly and cerebellar hypolasia are reported in Murrah buffalos. Six calves, one female and 5 male out of 128 born between 2004 and 2008 in a farm in southern Brazil were affected. All affected calves were offspring from the same bull. No affected buffaloes were observed in the descendants of other three bulls used in the farm. Main clinica
Publicado em: 2009
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3. Moebius' syndrome with unilateral cerebellar hypoplasia.
A case is reported of a child with Moebius' syndrome who also has unilateral cerebellar hypoplasia. We suggest that this combination of abnormalities could result from a vascular disruption occurring in the basilar artery early in its development.
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4. CEREBELLAR HYPOPLASIA ASSOCIATED WITH SYSTEMIC DEGENERATION IN EARLY LIFE
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5. Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification
An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification in the Hutterite population. An identity-by-descent mapping approach using eight patients from three interrelated Hutterite families localized the gene for this syndrome to chromos
The American Society of Human Genetics.
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6. Sex-linked recessive congenital ataxia.
A family is reported in which three boys, two full brothers and a half brother, presented with marked delay in motor milestones, severe limb and truncal ataxia, nystagmus, speech delay and moderate global retardation. Autosomal recessive and sex linked recessive forms of cerebellar hypoplasia are reviewed and it is suggested that this family may have a rare,
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7. Pathogenesis of Cerebellar Hypoplasia Produced by Lymphocytic Choriomeningitis Virus Infection of Neonatal Rats: Protective Effect of Immunosuppression with Anti-Lymphoid Serum
Intracerebral inoculation of 4-day-old rats with lymphocytic choriomeningitis virus (E-350 strain) produced a nonfatal, acute, severe, and permanent cerebellar necrosis with minimal histological evidence of inflammation. Virus persisted in the brain at high titers for 30 to 40 days and was finally cleared about 120 days after infection. Rabbit anti-rat lymph
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8. Joubert–Boltshauser syndrome with polydactyly in siblings
Two siblings are described with clinical features of the Joubert–Boltshauser syndrome. Both had polydactyly and one had fleshy tumours of the tongue. Computed tomography of the brain showed hypoplasia of the cerebellar vermis, associated in one case with a cyst of the fourth ventricle.
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9. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?
A male infant was found to have bilateral exudative retinopathy at 6 months of age. A month later severe aplastic anaemia was diagnosed, eventually leading to the infant's death. Additional features of this seemingly new syndrome were intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia
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10. Pathogenesis of Feline Panleukopenia Virus in Susceptible Newborn Kittens II. Pathology and Immunofluorescence 1
Twenty-three susceptible newborn kittens were inoculated with feline panleukopenia virus on the day of birth and were sacrificed from 18 hr to 43 days postinoculation (DPI). Macroscopic lesions included thymic atrophy in animals examined at 4 to 14 DPI and cerebellar hypoplasia and degeneration in animals examined at 22 to 43 DPI. Clinical signs of ataxia we
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11. Evidence of Parvovirus Replication in Cerebral Neurons of Cats
The correlation between parvovirus infections and lesions in the central nervous system other than cerebellar hypoplasia was studied in 100 cats. The animals were necropsied with a history of various diseases, one third showing typical clinical and pathomorphological signs of panleukopenia. In 18 cats polyclonal antiserum against canine parvovirus consistent
American Society for Microbiology.
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12. Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
The carbohydrate deficient glycoprotein (CDG) syndromes are a family of genetic multisystemic disorders with severe nervous system involvement. This report is on a child with a CDG syndrome that differs from the classical picture but is very similar to a patient reported in 1991. Both these patients are therefore designated CDG syndrome type II. Compared wit