Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis
نویسندگان
چکیده
منابع مشابه
MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis.
BACKGROUND AND PURPOSE Despite the ubiquity of G(M2) gangliosides accumulation in patients with late-onset G(M2) gangliosidosis (G(M2)G), the only clinical MR imaging-apparent brain abnormality is profound cerebellar atrophy. The goal of this study was to detect the presence and assess the extent of neuroaxonal injury in the normal-appearing gray and white matter (NAGM and NAWM) of these patien...
متن کاملLate onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients.
Brett, E. M., Ellis, R. B., Haas, L., Ikonne, J. U., Lake, B. D., Patrick, A. D., and Stephens, R. (1973). Archives of Disease in Childhood, 48, 775. Late onset GM2-gangliosidosis: clinical, pathological, and biochemical studies on 8 patients. Eight cases of late onset Gm,-gangliosidosis are described. 4 presented before the age of 2 years and 4 between 3j and 10 years. Gait disturbance, intell...
متن کاملThe natural history of cognitive dysfunction in late-onset GM2 gangliosidosis.
BACKGROUND Late-onset GM2 gangliosidosis (LGG) is a rare disease that is often considered in the differential diagnosis of adolescents and young adults who present with multiple realms of neurologic dysfunction. Cognitive disturbances are common but have not been systematically studied. OBJECTIVE To determine the natural history of cognitive dysfunction in patients with LGG. DESIGN Case ser...
متن کاملPathology of GM2 gangliosidosis in Jacob sheep.
The G(M2) gangliosidoses are a group of lysosomal storage diseases caused by defects in the genes coding for the enzyme hexosaminidase or the G(M2) activator protein. Four Jacob sheep from the same farm were examined over a 3-year period for a progressive neurologic disease. Two lambs were 6-month-old intact males and 2 were 8-month-old females. Clinical findings included ataxia in all 4 limbs,...
متن کاملAnimal models of GM2 gangliosidosis: utility and limitations
GM2 gangliosidosis, a subset of lysosomal storage disorders, is caused by a deficiency of the glycohydrolase, β-N-acetylhexosaminidase, and includes the closely related Tay-Sachs and Sandhoff diseases. The enzyme deficiency prevents the normal, stepwise degradation of ganglioside, which accumulates unchecked within the cellular lysosome, particularly in neurons. As a result, individuals with GM...
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ژورنال
عنوان ژورنال: Neurology
سال: 2020
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000008959