A computer rendering of a deformed chromosome

Expanding our understanding of neurodegenerative disorders

In a study published in the journal 神经学 in 2001, a bb电子糖果派对棋牌网址 MIND Institute team led by 兰迪哈格曼, Endowed Chair in Fragile X 研究, described a new condition, fragile X-associated tremor/ataxia syndrome (FXTAS). This late-onset neurodegenerative disorder is associated with problems of movement, memory and the autonomic nervous system. 哈格曼, a physician and MIND Institute medical director, had initially identified FXTAS two years earlier, after seeing patients in her clinical practice. 与此同时, fragile X team member Flora Tassone, professor of biochemistry and molecular medicine, discovered that increased activity of the gene FMR1 gene dysregulation was the basis for the disorder. FXTAS is related to fragile X syndrome, the most common known cause of inherited intellectual disability and the leading single-gene cause of autism spectrum disorder. 在它被发现之前, FXTAS often was misdiagnosed as Alzheimer’s disease, Parkinson’s disease or other neurological disorders including neuropathy. 哈格曼 and Tassone’s current work is focused on finding treatments for FXTAS and facilitating a better understanding of all age-related neurodegenerative processes.