FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2042825905> ?p ?o ?g. }

• W2042825905 endingPage "459" @default.
• W2042825905 startingPage "450" @default.
• W2042825905 abstract "•C9orf72 repeat expansions are the most frequent cause of FTLD/ALS spectrum diseases. •Expanded C9orf72 repeats are associated with diverse neurological diseases. •Expanded C9orf72 repeats lead to diverse pathological inclusions in the CNS. •Not all families in the FTLD/ALS spectrum are genetically explained. An expanded G4C2 hexanucleotide repeat in the proximal regulatory region of C9orf72 is a frequent cause of neurodegenerative diseases in the frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND) spectrum. Although primarily characterized by variably abundant pathological inclusions of TDP-43 protein, the lesion load was extended to TDP-43-negative, p62-positive neuronal and glial inclusions in extended regions of the central nervous system (CNS), particularly in cerebellum, where they may be characteristic of a C9orf72 repeat expansion. Disease mechanisms associated with repeat expansion disorders, including haploinsufficiency, RNA toxicity, and abnormal translation of expanded repeat sequences, are beginning to emerge. We review genetic, clinical, and pathological highlights and discuss current insights into the biology of this novel type of repeat expansion disease. An expanded G4C2 hexanucleotide repeat in the proximal regulatory region of C9orf72 is a frequent cause of neurodegenerative diseases in the frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND) spectrum. Although primarily characterized by variably abundant pathological inclusions of TDP-43 protein, the lesion load was extended to TDP-43-negative, p62-positive neuronal and glial inclusions in extended regions of the central nervous system (CNS), particularly in cerebellum, where they may be characteristic of a C9orf72 repeat expansion. Disease mechanisms associated with repeat expansion disorders, including haploinsufficiency, RNA toxicity, and abnormal translation of expanded repeat sequences, are beginning to emerge. We review genetic, clinical, and pathological highlights and discuss current insights into the biology of this novel type of repeat expansion disease. disease penetrance which increases with age, whereby all carriers of a disease-associated allele exhibit clinical symptoms at a given age when disease penetrance is complete. the most common form of MND in which patients have both signs of upper motor neuron (UMN) degeneration, which include muscular spasticity and hyperreflexia, and signs of lower motor neuron (LMN) degeneration, which comprise muscular atrophy and fasciculations. the inability of a person to recognize his or her own disability. the proportion of individuals carrying a specific allele at a given locus and who exhibit associated clinical symptoms. a form of neurodegenerative dementia in which predominantly the frontal and anterior temporal lobes are affected, characterized by progressive behavioral change or language difficulties. inverse correlation between generation number and onset and severity of disease in families, mostly due to instability of expanded repeats that tend to further increase in size with each generation. disease penetrance of less than 100%, whereby not all carriers of a disease-associated allele exhibit clinical symptoms. a progressive neurodegenerative condition that selectively affects the motor neurons located in the cerebral cortex (UMN), brainstem, and the anterior horn of the spinal cord (LMN), characterized by loss of voluntary muscle activity. a form of MND in which patients only exhibit signs of UMN degeneration. a form of FTLD characterized by loss of motor speech fluency and agrammatism, with relatively intact language comprehension. a form of MND which selectively affects the nerves supplying the bulbar muscles that are required for swallowing or speech production. a form of MND in which patients only have signs of LMN degeneration. a form of FTLD characterized by progressive language comprehension deficits and naming errors with otherwise spared speech production. occurrence of genetic differences between somatic cell populations of the body due to mitotically acquired DNA variation." @default.
• W2042825905 created "2016-06-24" @default.
• W2042825905 creator A5013899525 @default.
• W2042825905 creator A5039639102 @default.
• W2042825905 creator A5060034564 @default.
• W2042825905 creator A5082573855 @default.
• W2042825905 creator A5088006851 @default.
• W2042825905 date "2013-08-01" @default.
• W2042825905 modified "2023-10-18" @default.
• W2042825905 title "Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum" @default.
• W2042825905 cites W1579899502 @default.
• W2042825905 cites W1619082318 @default.
• W2042825905 cites W1763842383 @default.
• W2042825905 cites W1841466680 @default.
• W2042825905 cites W1963943740 @default.
• W2042825905 cites W1974485241 @default.
• W2042825905 cites W1974504862 @default.
• W2042825905 cites W1974583546 @default.
• W2042825905 cites W1975004322 @default.
• W2042825905 cites W1975262530 @default.
• W2042825905 cites W1978168248 @default.
• W2042825905 cites W1982638189 @default.
• W2042825905 cites W1983633543 @default.
• W2042825905 cites W1983792907 @default.
• W2042825905 cites W1984538960 @default.
• W2042825905 cites W1985171431 @default.
• W2042825905 cites W1986083613 @default.
• W2042825905 cites W1988134372 @default.
• W2042825905 cites W1992723082 @default.
• W2042825905 cites W1993730245 @default.
• W2042825905 cites W1995222212 @default.
• W2042825905 cites W1996371988 @default.
• W2042825905 cites W2003618511 @default.
• W2042825905 cites W2006012682 @default.
• W2042825905 cites W2006662795 @default.
• W2042825905 cites W2006797111 @default.
• W2042825905 cites W2008213051 @default.
• W2042825905 cites W2011754116 @default.
• W2042825905 cites W2012217947 @default.
• W2042825905 cites W2013131112 @default.
• W2042825905 cites W2021997569 @default.
• W2042825905 cites W2025621504 @default.
• W2042825905 cites W2026340703 @default.
• W2042825905 cites W2028762358 @default.
• W2042825905 cites W2029726250 @default.
• W2042825905 cites W2031964319 @default.
• W2042825905 cites W2036427176 @default.
• W2042825905 cites W2041064199 @default.
• W2042825905 cites W2045373134 @default.
• W2042825905 cites W2045708478 @default.
• W2042825905 cites W2049145849 @default.
• W2042825905 cites W2053756212 @default.
• W2042825905 cites W2055725404 @default.
• W2042825905 cites W2056607803 @default.
• W2042825905 cites W2061342799 @default.
• W2042825905 cites W2063643491 @default.
• W2042825905 cites W2066002405 @default.
• W2042825905 cites W2067772208 @default.
• W2042825905 cites W2068477500 @default.
• W2042825905 cites W2069171272 @default.
• W2042825905 cites W2072981065 @default.
• W2042825905 cites W2076404202 @default.
• W2042825905 cites W2078316799 @default.
• W2042825905 cites W2080802641 @default.
• W2042825905 cites W2081106067 @default.
• W2042825905 cites W2084541096 @default.
• W2042825905 cites W2086406144 @default.
• W2042825905 cites W2090365926 @default.
• W2042825905 cites W2091657096 @default.
• W2042825905 cites W2092451107 @default.
• W2042825905 cites W2093626853 @default.
• W2042825905 cites W2095798723 @default.
• W2042825905 cites W2096908243 @default.
• W2042825905 cites W2098055496 @default.
• W2042825905 cites W2100623206 @default.
• W2042825905 cites W2101023175 @default.
• W2042825905 cites W2104453671 @default.
• W2042825905 cites W2107562621 @default.
• W2042825905 cites W2112020685 @default.
• W2042825905 cites W2115462299 @default.
• W2042825905 cites W2117792884 @default.
• W2042825905 cites W2118510420 @default.
• W2042825905 cites W2119536406 @default.
• W2042825905 cites W2119538681 @default.
• W2042825905 cites W2119718615 @default.
• W2042825905 cites W2122047581 @default.
• W2042825905 cites W2125073277 @default.
• W2042825905 cites W2126671539 @default.
• W2042825905 cites W2127861463 @default.
• W2042825905 cites W2130034267 @default.
• W2042825905 cites W2130202191 @default.
• W2042825905 cites W2132191094 @default.
• W2042825905 cites W2132200611 @default.
• W2042825905 cites W2132629018 @default.
• W2042825905 cites W2134024603 @default.
• W2042825905 cites W2137404280 @default.
• W2042825905 cites W2138207816 @default.
• W2042825905 cites W2139264742 @default.

• next