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gangliosidoses/tremolor
L'enllaç es desa al porta-retalls
Pàgina 1 des de 20 resultats
Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis.
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[Clinical features of GM1 and GM2 gangliosidosis in own observation].
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BACKGROUND
Lysosomal enzyme defects leeds to intracellular storage and cause damage in many organs, almost always affects central nervous system. AIM. The aim of the study was to reveal the location and clinical characteristics of gangliosidosis in pediatric neurology.
METHODS
Gangliosidoses GM1 and
GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan.
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A male Japanese domestic cat with retarded growth in Hokkaido, Japan, showed progressive motor dysfunction, such as ataxia starting at 3 months of age and tremors, visual disorder and seizure after 4 months of age. Finally, the cat died of neurological deterioration at 9 months of age. Approximately
Hepatic beta galactosidase and feline GMI gangliosidosis.
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This paper describes the clinical, morphological and biochemical features of three cats with a progressive neurological disorder. Clinical features were ataxia and progressive tremor. The morphological characteristics were those of lysosomal storage disease affecting neurones of the central nervous
Neuronal-visceral GM1 gangliosidosis in Portuguese water dogs.
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Three female siblings in a litter of seven Portuguese Water dogs (PWDs) showed clinical signs of ataxia and/or lameness at 5 months of age. Signs of cerebellar dysfunction (intention tremors, ataxia, widebased stance, dysmetria, and/or nystagmus) and mild limb weakness developed rapidly. Results of
Gangliosidosis in emus (Dromaius novaehollandiae).
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A 6-month-old female emu (Dromaius novaehollandiae) died following acute central nervous system signs. Hematoxylin-and-eosin-stained sections revealed that neurons of the brain were distended with nonstaining 1-to-2-microns vacuoles. Ultrastructural examination of the affected neurons revealed
GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles.
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BACKGROUND
GM2 gangliosidosis variant 0 (human Sandhoff disease) is a lysosomal storage disorder caused by deficiencies of acid β-hexosaminidase (Hex) A and Hex B because of an abnormality of the β-subunit, a common component in these enzyme molecules, which is coded by the HEXB gene.
OBJECTIVE
To
Clinical and clinico-pathologic characteristics of Shiba dogs with a deficiency of lysosomal acid beta-galactosidase: a canine model of human GM1 gangliosidosis.
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The present study was conducted to determine the clinical and clinico-pathologic characteristics of Shiba dogs with GM1 gangliosidosis, which is due to an autosomal recessively inherited deficiency of lysosomal acid beta-galactosidase activity. Clinical and clinico-pathological features were
Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human GM1-Gangliosidosis.
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GM1-gangliosidosis is caused by a reduced activity of β-galactosidase (Glb1), resulting in intralysosomal accumulations of GM1. The aim of this study was to reveal the pathogenic mechanisms of GM1-gangliosidosis in a new Glb1 knockout mouse model.
Gene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flow.
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The GM2 gangliosidoses are fatal lysosomal storage diseases principally affecting the brain. Absence of β-hexosaminidase A and B activities in the Sandhoff mouse causes neurological dysfunction and recapitulates the acute Tay-Sachs (TSD) and Sandhoff diseases (SD) in infants. Intracranial
GM2-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats.
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A five-month-old, female Japanese domestic shorthair cat with proportionate dwarfism developed neurological disorders, including ataxia, decreased postural responses and generalised body and head tremors, at between two and five months of age. Leucocytosis due to lymphocytosis with abnormal
GM1 gangliosidosis in shiba dogs.
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A six-month-old shiba dog with a one-month history of progressive motor dysfunction showed clinical signs of a cerebellar disorder, including ataxia, dysmetria and intention tremor of the head. Histopathological and ultrastructural studies revealed distended neurons packed with membranous
[Juvenile-onset dystonia with bilateral atrophy of the basal ganglia on MRI].
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A 40-year-old man was hospitalized for tremor of the right upper limb, gait disturbance and dysarthria. His course of development had been normal until the age of 14, when difficulties in speaking and walking, and tremor of the upper limb became evident following an episode of fever. His symptoms
Characterization of inducible models of Tay-Sachs and related disease.
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Tay-Sachs and Sandhoff diseases are lethal inborn errors of acid β-N-acetylhexosaminidase activity, characterized by lysosomal storage of GM2 ganglioside and related glycoconjugates in the nervous system. The molecular events that lead to irreversible neuronal injury accompanied by gliosis are
Juvenile parkinsonism: a heterogeneous entity.
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We studied the clinical features, laboratory investigation, management and natural history of a cohort of patients with Juvenile Parkinsonism (JP), seen at a tertiary referral centre. JP was defined as Parkinsonism with onset at age 20 years or less. Six patients (five male, one female) entered the
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