FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2794116559> ?p ?o ?g. }

• W2794116559 endingPage "656" @default.
• W2794116559 startingPage "647" @default.
• W2794116559 abstract "Abstract Objectives Cerebrotendinous xanthomatosis (CTX) is a rare inherited neurodegenerative disorder in bile acid synthesis. The natural history of neurological abnormalities in CTX is not well understood. The object of this study was to determine neurological progression in CTX. Methods A literature search on PubMed for “cerebrotendinous xanthomatosis” yielded 91 publications that reported cases of CTX patients. Two independent reviewers abstracted information about the presence and age of onset of neurological abnormalities in published CTX cases. For each neurological abnormality, we estimated the probability of its onset at any given age using cumulative incidence function analysis. We also present our own case series, in which five CTX patients were evaluated. Results The literature search yielded 194 CTX cases (ages ranging from newborn to 67 years old). The most common neurological abnormalities were corticospinal tract abnormalities including weakness, hyperreflexia, spasticity, Babinski sign (59.8%), ataxia (58.8%), cognitive decline (46.4%), and gait difficulty (38.1%); 68 (35.0%) had baseline cognitive problems. Cumulative incidence function analysis revealed that ataxia, gait difficulties, and corticospinal tract abnormalities developed throughout life, while cognitive decline tended to develop later in life. Of the less common neurological abnormalities, seizures, psychiatric changes and speech changes developed throughout life, while parkinsonism and sensory changes tended to develop later in life. Our case series corroborated this temporal pattern of neurological abnormalities. Conclusion We provide estimates for the neurological progression of CTX, categorizing neurological abnormalities according to time and probability of development. Our approach may be applicable to other rare disorders." @default.
• W2794116559 created "2018-03-29" @default.
• W2794116559 creator A5003596431 @default.
• W2794116559 creator A5036919823 @default.
• W2794116559 creator A5039285555 @default.
• W2794116559 creator A5072357111 @default.
• W2794116559 date "2018-02-26" @default.
• W2794116559 modified "2023-10-01" @default.
• W2794116559 title "Natural history of neurological abnormalities in cerebrotendinous xanthomatosis" @default.
• W2794116559 cites W1520208834 @default.
• W2794116559 cites W1545208911 @default.
• W2794116559 cites W1550420785 @default.
• W2794116559 cites W1577844660 @default.
• W2794116559 cites W1830050292 @default.
• W2794116559 cites W1963738762 @default.
• W2794116559 cites W1963927581 @default.
• W2794116559 cites W1969711792 @default.
• W2794116559 cites W1970953886 @default.
• W2794116559 cites W1972478855 @default.
• W2794116559 cites W1973011998 @default.
• W2794116559 cites W1973874190 @default.
• W2794116559 cites W1974914616 @default.
• W2794116559 cites W1978363891 @default.
• W2794116559 cites W1981837025 @default.
• W2794116559 cites W1983269063 @default.
• W2794116559 cites W1983797381 @default.
• W2794116559 cites W1984445450 @default.
• W2794116559 cites W1990282558 @default.
• W2794116559 cites W1991348314 @default.
• W2794116559 cites W1992584859 @default.
• W2794116559 cites W1993380517 @default.
• W2794116559 cites W1997306672 @default.
• W2794116559 cites W1999011842 @default.
• W2794116559 cites W1999593306 @default.
• W2794116559 cites W2000770805 @default.
• W2794116559 cites W2002088632 @default.
• W2794116559 cites W2002158417 @default.
• W2794116559 cites W2007816380 @default.
• W2794116559 cites W2009429517 @default.
• W2794116559 cites W2011696736 @default.
• W2794116559 cites W2012788984 @default.
• W2794116559 cites W2015465210 @default.
• W2794116559 cites W2015960492 @default.
• W2794116559 cites W2016508296 @default.
• W2794116559 cites W2017248949 @default.
• W2794116559 cites W2018775741 @default.
• W2794116559 cites W2023087952 @default.
• W2794116559 cites W2029544371 @default.
• W2794116559 cites W2030477005 @default.
• W2794116559 cites W2038015349 @default.
• W2794116559 cites W2040482739 @default.
• W2794116559 cites W2040844514 @default.
• W2794116559 cites W2041397505 @default.
• W2794116559 cites W2042297389 @default.
• W2794116559 cites W2046082736 @default.
• W2794116559 cites W2046316177 @default.
• W2794116559 cites W2046366269 @default.
• W2794116559 cites W2049327095 @default.
• W2794116559 cites W2052323280 @default.
• W2794116559 cites W2053033773 @default.
• W2794116559 cites W2054060754 @default.
• W2794116559 cites W2055429135 @default.
• W2794116559 cites W2057466090 @default.
• W2794116559 cites W2057847137 @default.
• W2794116559 cites W2058794887 @default.
• W2794116559 cites W2059109550 @default.
• W2794116559 cites W2059531238 @default.
• W2794116559 cites W2059588075 @default.
• W2794116559 cites W2061566022 @default.
• W2794116559 cites W2066490043 @default.
• W2794116559 cites W2067437968 @default.
• W2794116559 cites W2075594922 @default.
• W2794116559 cites W2076398664 @default.
• W2794116559 cites W2078220474 @default.
• W2794116559 cites W2078254463 @default.
• W2794116559 cites W2079151187 @default.
• W2794116559 cites W2080117722 @default.
• W2794116559 cites W2080427118 @default.
• W2794116559 cites W2086350774 @default.
• W2794116559 cites W2087608763 @default.
• W2794116559 cites W2089857894 @default.
• W2794116559 cites W2092450058 @default.
• W2794116559 cites W2092699375 @default.
• W2794116559 cites W2094544700 @default.
• W2794116559 cites W2102168350 @default.
• W2794116559 cites W2102504030 @default.
• W2794116559 cites W2114913763 @default.
• W2794116559 cites W2140212287 @default.
• W2794116559 cites W2142300056 @default.
• W2794116559 cites W2148945669 @default.
• W2794116559 cites W2155003364 @default.
• W2794116559 cites W2158277243 @default.
• W2794116559 cites W2158963463 @default.
• W2794116559 cites W2159228959 @default.
• W2794116559 cites W2159408233 @default.
• W2794116559 cites W2159758354 @default.
• W2794116559 cites W2162548777 @default.
• W2794116559 cites W2163947562 @default.

• next