Matches in SemOpenAlex for { <https://semopenalex.org/work/W2120122995> ?p ?o ?g. }
- W2120122995 endingPage "e40604" @default.
- W2120122995 startingPage "e40604" @default.
- W2120122995 abstract "Wolfram Syndrome (WFS) is a rare autosomal recessive disease characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, diabetes insipidus, deafness, and neurological dysfunction leading to death in mid-adulthood. WFS is caused by mutations in the WFS1 gene, which lead to endoplasmic reticulum (ER) stress-mediated cell death. Case studies have found widespread brain atrophy in late stage WFS. However, it is not known when in the disease course these brain abnormalities arise, and whether there is differential vulnerability across brain regions and tissue classes. To address this limitation, we quantified regional brain abnormalities across multiple imaging modalities in a cohort of young patients in relatively early stages of WFS. Children and young adults with WFS were evaluated with neurological, cognitive and structural magnetic resonance imaging measures. Compared to normative data, the WFS group had intact cognition, significant anxiety and depression, and gait abnormalities. Compared to healthy and type 1 diabetic control groups, the WFS group had smaller intracranial volume and preferentially affected gray matter volume and white matter microstructural integrity in the brainstem, cerebellum and optic radiations. Abnormalities were detected in even the youngest patients with mildest symptoms, and some measures did not follow the typical age-dependent developmental trajectory. These results establish that WFS is associated with smaller intracranial volume with specific abnormalities in the brainstem and cerebellum, even at the earliest stage of clinical symptoms. This pattern of abnormalities suggests that WFS has a pronounced impact on early brain development in addition to later neurodegenerative effects, representing a significant new insight into the WFS disease process. Longitudinal studies will be critical for confirming and expanding our understanding of the impact of ER stress dysregulation on brain development." @default.
- W2120122995 created "2016-06-24" @default.
- W2120122995 creator A5004525222 @default.
- W2120122995 creator A5011047448 @default.
- W2120122995 creator A5023938814 @default.
- W2120122995 creator A5027896516 @default.
- W2120122995 creator A5032797754 @default.
- W2120122995 creator A5035553977 @default.
- W2120122995 creator A5057503672 @default.
- W2120122995 creator A5059281499 @default.
- W2120122995 creator A5073986889 @default.
- W2120122995 date "2012-07-11" @default.
- W2120122995 modified "2023-09-30" @default.
- W2120122995 title "Early Brain Vulnerability in Wolfram Syndrome" @default.
- W2120122995 cites W1607201914 @default.
- W2120122995 cites W1742738349 @default.
- W2120122995 cites W1964290543 @default.
- W2120122995 cites W1964299033 @default.
- W2120122995 cites W1964802316 @default.
- W2120122995 cites W1973854653 @default.
- W2120122995 cites W1975301556 @default.
- W2120122995 cites W1975938737 @default.
- W2120122995 cites W1976161806 @default.
- W2120122995 cites W1977038328 @default.
- W2120122995 cites W1981453697 @default.
- W2120122995 cites W1982198467 @default.
- W2120122995 cites W1984825203 @default.
- W2120122995 cites W1985648546 @default.
- W2120122995 cites W1990476890 @default.
- W2120122995 cites W1993606422 @default.
- W2120122995 cites W1994972002 @default.
- W2120122995 cites W1995643581 @default.
- W2120122995 cites W1996589087 @default.
- W2120122995 cites W1996720932 @default.
- W2120122995 cites W1997715662 @default.
- W2120122995 cites W2001037511 @default.
- W2120122995 cites W2001728825 @default.
- W2120122995 cites W2002073678 @default.
- W2120122995 cites W2004293194 @default.
- W2120122995 cites W2004518960 @default.
- W2120122995 cites W2008152557 @default.
- W2120122995 cites W2012462004 @default.
- W2120122995 cites W2014146179 @default.
- W2120122995 cites W2019025806 @default.
- W2120122995 cites W2019735016 @default.
- W2120122995 cites W2019795338 @default.
- W2120122995 cites W2025047388 @default.
- W2120122995 cites W2027667154 @default.
- W2120122995 cites W2032711239 @default.
- W2120122995 cites W2035102481 @default.
- W2120122995 cites W2036830125 @default.
- W2120122995 cites W2037750372 @default.
- W2120122995 cites W2038467165 @default.
- W2120122995 cites W2039858103 @default.
- W2120122995 cites W2039929057 @default.
- W2120122995 cites W2040570303 @default.
- W2120122995 cites W2041214350 @default.
- W2120122995 cites W2041256210 @default.
- W2120122995 cites W2041678996 @default.
- W2120122995 cites W2046132588 @default.
- W2120122995 cites W2047152236 @default.
- W2120122995 cites W2047410266 @default.
- W2120122995 cites W2048456744 @default.
- W2120122995 cites W2048678691 @default.
- W2120122995 cites W2059081776 @default.
- W2120122995 cites W2060336303 @default.
- W2120122995 cites W2063001897 @default.
- W2120122995 cites W2063734943 @default.
- W2120122995 cites W2068277204 @default.
- W2120122995 cites W2080687093 @default.
- W2120122995 cites W2083934855 @default.
- W2120122995 cites W2088169265 @default.
- W2120122995 cites W2089640650 @default.
- W2120122995 cites W2097976832 @default.
- W2120122995 cites W2110208125 @default.
- W2120122995 cites W2111205934 @default.
- W2120122995 cites W2112518510 @default.
- W2120122995 cites W2113706761 @default.
- W2120122995 cites W2115633787 @default.
- W2120122995 cites W2116210000 @default.
- W2120122995 cites W2116657339 @default.
- W2120122995 cites W2119848633 @default.
- W2120122995 cites W2120185413 @default.
- W2120122995 cites W2124911240 @default.
- W2120122995 cites W2126449827 @default.
- W2120122995 cites W2126793458 @default.
- W2120122995 cites W2126928922 @default.
- W2120122995 cites W2127324977 @default.
- W2120122995 cites W2138790588 @default.
- W2120122995 cites W2143069340 @default.
- W2120122995 cites W2146473511 @default.
- W2120122995 cites W2149995096 @default.
- W2120122995 cites W2150667092 @default.
- W2120122995 cites W2150825673 @default.
- W2120122995 cites W2151721316 @default.
- W2120122995 cites W2155377428 @default.
- W2120122995 cites W2160412220 @default.
- W2120122995 cites W2161085583 @default.