2019
DOI: 10.1016/s1474-4422(18)30368-5
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Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

Abstract: Treatment of the neuronal ceroid lipofuscinoses, also known as Batten disease, is at the start of a new era because of diagnostic and therapeutic advances relevant to this group of inherited neurodegenerative and life-limiting disorders that affect children. Diagnosis has improved with the use of comprehensive DNA-based tests that simultaneously screen for many genes. The identification of disease-causing mutations in 13 genes provides a basis for understanding the molecular mechanisms underlying neuronal cero… Show more

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Cited by 142 publications
(180 citation statements)
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References 85 publications
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“…Mutations in the CTSF gene result in NCL type 13 (CLN13, OMIM ID: 615362), an adult-onset form of NCL, also known as type B Kufs disease [43,[134][135][136][137]. Patients with CLN13 exhibit mental and motor deterioration in late adulthood [51]. To date, nine mutations with recessive inheritance are known to cause CLN13: six missense mutations (p.Gln321Arg, p.Gly458Ala, p.Ser480Leu, p.Tyr231Cys, p.Ile404Thr, and p.Cys326Phe), a nonsense mutation c.416C > A (p.S139*), a frameshift mutation (p.Ser319Leufs*27), and a mutation preventing the correct splicing of CTSF mRNA (c.213 + 1G>C) [134][135][136][137].…”
Section: Gene Deficiency Biological Effect Referencesmentioning
confidence: 99%
“…Mutations in the CTSF gene result in NCL type 13 (CLN13, OMIM ID: 615362), an adult-onset form of NCL, also known as type B Kufs disease [43,[134][135][136][137]. Patients with CLN13 exhibit mental and motor deterioration in late adulthood [51]. To date, nine mutations with recessive inheritance are known to cause CLN13: six missense mutations (p.Gln321Arg, p.Gly458Ala, p.Ser480Leu, p.Tyr231Cys, p.Ile404Thr, and p.Cys326Phe), a nonsense mutation c.416C > A (p.S139*), a frameshift mutation (p.Ser319Leufs*27), and a mutation preventing the correct splicing of CTSF mRNA (c.213 + 1G>C) [134][135][136][137].…”
Section: Gene Deficiency Biological Effect Referencesmentioning
confidence: 99%
“…Fourteen NCLs or NCL‐like phenotypes have been identified . Common symptoms occur over different time courses according to subtype, and include seizures; visual, cognitive, and motor decline; and onset of dementia, before death during childhood or adolescence …”
mentioning
confidence: 99%
“…We have not outlined similar gene therapy or cellular therapy trials that have already been completed with negative results or may be in a preliminary stage, for example with other subtypes of ceroid lipofuscinosis …”
Section: Disease‐modifying and Disease‐specific Therapiesmentioning
confidence: 99%
“…Tyrosine hydroxylase deficiency can present with akinesia, hypotonia, and oculogyric crises in infancy, and patients can become dyskinetic at low doses, but, on slow increasing regimens, may respond impressively, typically requiring higher doses than *We have not outlined similar gene therapy or cellular therapy trials that have already been completed with negative results or may be in a preliminary stage, for example with other subtypes of ceroid lipofuscinosis. 68 AADC, aromatic acid decarboxylase; AAV, adeno-associated virus; AGS, Aicardi-Goutieres syndrome.…”
Section: Dopaminergic Therapiesmentioning
confidence: 99%