Mucolipidosis type IV (MLIV) is an autosomal recessive disorder typically characterized by severe psychomotor delay evident by the end of the first year of life and slowly progressive visual impairment during the first decade as a result of a combination of corneal clouding and retinal degeneration. We will evaluate the natural history of the disease yearly in up to 10 MLIV patients over 5 years. We hypothesize that over the period of observation there will be a small decline in neurological function and structure in patients with MLIV. The main outcome measures in this study will be the neurocognitive characteristics of patients with MLIV and the structural brain characteristics of patients with MLIV and in particular brain volume and diffusion tensor imaging. The evaluative tools in this study will include MRI, age appropriate measures of neurocognitive function, EEG, swallow studies, physical therapy and nutrition.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
2U54NS065768-06
Application #
8907053
Study Section
Special Emphasis Panel (ZTR1-CI-8 (01))
Program Officer
Morris, Jill A
Project Start
Project End
Budget Start
2014-09-30
Budget End
2015-07-31
Support Year
6
Fiscal Year
2014
Total Cost
$52,200
Indirect Cost
$13,000
Name
University of Minnesota Twin Cities
Department
Type
DUNS #
555917996
City
Minneapolis
State
MN
Country
United States
Zip Code
55455
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