While the more specific underlying causes of leukodystrophy are dependent upon the type, there are, however, common pathophysiological patterns that can be seen amongst all types.
32.
They further investigated the role of steroid sulfatases in metachromatic leukodystrophy and multiple sulfatase deficiency, and they identified acid ceramidase as the enzyme deficient in Farber s disease.
33.
Jill Kelly and her husband, NFL quarterback Jim Kelly, founded Hunter's Hope after their son Hunter ( 1997-2005 ) was diagnosed with infantile Krabbe leukodystrophy.
34.
The specific name for the form of leukodystrophy Kelly's son has is Krabbe's, which affects white enzymes in the part of the brain that controls motor skills.
35.
Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
36.
He travelled a distance 4752 km, raising $ 130, 000 for the Australian Lions Children s Mobility Foundation ( ALCMF ) and the Australian Leukodystrophy Support Group Inc ( ALDS ).
37.
"' Metazym "'is an experimental recombinant enzyme that was studied in patients with late infantile metachromatic leukodystrophy, but found to be ineffective under the conditions of that trial.
38.
The Foundation's beginnings were inspired by Dr . Sam Stennis, a former optometrist in Amarillo, Texas, who, at age 47, was diagnosed with adult-onset Metachromatic leukodystrophy.
39.
The former Buffalo Bills quarterback, who now is working as an anaylst for NBC, said he and his wife learned last month that Hunter James has from a leukodystrophy called Krabbe's Disease.
40.
An abnormal metabolism or change in the expression of sulfatide has also been associated with various pathologies, including neuropathologies, such as metachromatic leukodystrophy, Alzheimer's disease, and Parkinson's Disease.
