Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers

Beltran, Lucas; Valenzuela, Gabriela Reyes; Loos, Mariana; Vargas, Rodrigo; Lizama, Rafael; Spinsanti, Pablo; Caraballo, Roberto

doi:10.1016/j.eplepsyres.2018.05.005

Cited by 16 publications

(22 citation statements)

References 17 publications

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“…46 In one series, incidental chronic subdural hematomas were evident in four of nine participants. 47 Photoparoxysmal response to low-frequency intermittent photic stimulation has been described in CLN2 and CLN6 disease, [48][49][50] though it is not clear if this is a specific feature in CLN1 disease. 48 Loss of sleep spindles is also observed, particularly in early-onset forms.…”

Section: J O U R N a L P R E -P R O O Fmentioning

confidence: 99%

Management of CLN1 Disease: International Clinical Consensus

Augustine

Adams

Reyes

et al. 2021

Pediatric Neurology

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Section: J O U R N a L P R E -P R O O Fmentioning

confidence: 99%

Management of CLN1 Disease: International Clinical Consensus

Augustine

Adams

Reyes

et al. 2021

Pediatric Neurology

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“…áîëåçíè ïðèñîåäèíÿþòñÿ äðóãèå òèïû ïðèñòóïîâ (ìèîêëîíè÷åñêèå, àòèïè÷íûå àáñàíñû, ôîêàëüíûå), ðàçâèâàþòñÿ äâèãàòåëüíûå, ìîçaeå÷êîâûå è êîãíèòèâíûå ðàññòðîéñòâà, âîçíèêàåò ïîñòåïåííîå ñíèaeåíèå çðåíèÿ, ïðèâîäÿùåå ê ïîëíîé ñëåïîòå â âîçðàñòå 4-6 ëåò. Òå÷åíèå çàáîëåâàíèÿ áûñòðî ïðîãðåññèðóþùåå ñ ëåòàëüíûì èñõîäîì â òå÷åíèå íåñêîëüêèõ ëåò [4,7,[10][11][12][13][14]. Ïðè ïðîâåäåíèè ìàãíèòíî-ðåçîíàíñíîé òîìîãðàôèè (ÌÐÒ) ãîëîâíîãî ìîçãà ó ïîäàâëÿþùåãî áîëüøèíñòâà ïàöèåíòîâ îáíàðóaeèâàþò äèôôóçíóþ êîðòèêàëüíóþ è ñóáêîðòèêàëüíóþ àòðîôèþ âåùåñòâà ãîëîâíîãî ìîçãà è ìîçaeå÷êà, à òàêaeå ïîâûøåíèå èíòåíñèâíîñòè ÌÐ-ñèãíàëà â ïåðèâåíòðèêóëÿðíîì áåëîì âåùåñòâå è ñíèaeåíèå èíòåíñèâíîñòè ÌÐ-ñèãíàëà â îáëàñòè áàçàëüíûõ ãàíãëèåâ è òàëàìóñà [11].…”

Section: __________________________unclassified

“…Ïðè ïðîâåäåíèè ìàãíèòíî-ðåçîíàíñíîé òîìîãðàôèè (ÌÐÒ) ãîëîâíîãî ìîçãà ó ïîäàâëÿþùåãî áîëüøèíñòâà ïàöèåíòîâ îáíàðóaeèâàþò äèôôóçíóþ êîðòèêàëüíóþ è ñóáêîðòèêàëüíóþ àòðîôèþ âåùåñòâà ãîëîâíîãî ìîçãà è ìîçaeå÷êà, à òàêaeå ïîâûøåíèå èíòåíñèâíîñòè ÌÐ-ñèãíàëà â ïåðèâåíòðèêóëÿðíîì áåëîì âåùåñòâå è ñíèaeåíèå èíòåíñèâíîñòè ÌÐ-ñèãíàëà â îáëàñòè áàçàëüíûõ ãàíãëèåâ è òàëàìóñà [11]. Íà ýëåêòðîýíöåôàëîãðàôèè (ÝÝÃ) ðåãèñòðèðóþò óìåíüøåíèå àìïëèòóäû îñíîâíîãî êîðêîâîãî ðèòìà, îòñóòñòâèå ñôîðìèðîâàííûõ ñîííûõ âåðåòåí âî âðåìÿ ñíà, îñëàáëåíèå ýëåê-òðîôèçèîëîãè÷åñêîé ðåàêöèè íà ïðîáû ñ îòêðûâàíèåì-çàêðûâàíèåì ãëàç ñ ïîñëåäóþùåé äåïðåññèåé àëüôà-ðèòìà ïî ñðàâíåíèþ ñ ôîíîâîé êîðêîâîé àêòèâíîñòüþ [4,12].…”

Section: __________________________unclassified

“…Íåéðîíàëüíûé öåðîèäíûé ëèïîôóñöèíîç (ÍÖË) ÿâëÿåòñÿ îäíîé èç íàèáîëåå ÷àñòî íàñëåäóåìûõ äåòñêèõ íåéðîäåãåíåðàòèâíûõ ïàòîëîãèé. Ñóììàðíàÿ ÷àñòîòà âñòðå÷àåìîñòè âñåõ ôîðì çàáîëåâàíèÿ â ìèðå ñîñòàâëÿåò 1 : 25000 [1][2][3][4]. Â çàâèñèìîñòè îò êëèíè÷åñêîé êàðòèíû è âîçðàñòà äåáþòà ñèìïòîìîâ âûäåëÿþò âðîaeäåííóþ (CNCL), èíôàíòèëüíóþ (INCL), ïîçäíþþ èíôàíòèëüíóþ (LINCL), þâåíèëüíóþ (JNCL), âçðîñëóþ (ANCL) ôîðìû ÍÖË è ñåâåðíóþ ýïèëåïñèþ (NE PEMR).…”

Section: Introductionunclassified

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A clinical case of neuronal ceroid lipofuscinosis type 2

Краева¹,

Алифирова²,

Королева³

et al. 2020

Bûll. sib. med.

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Neuronal ceroid lipofuscinoses (NCL, Batten disease) are a group of inherited neurodegenerative diseases characterized by age-related onset, progressive myoclonus epilepsy, visual impairment and progressive intellectual and motor disorders. In all forms of NCL, the pathological autofluorescent lipopigment accumulates in the brain and other tissues. The diagnosis is made following determination of the activity of specific enzymes in blood leukocytes or cell culture of skin fibroblasts and investigation of biopsy specimens with electron microscopy as well as molecular genetic research. The article presents a patient with the onset of the disease at the age of 3 with epileptic tonic-clonic seizures, with further progression of the disease in the form of myoclonic seizures, motor pyramidal and cerebellar disorders, as well as intellectual, mnestic and speech disturbances. The presented clinical case demonstrates difficulties in the diagnosis of neurodegenerative diseases at onset, as well as the absence of pathognomonic signs of the disease during neurophysiological and neuroimaging examinations, which makes it necessary to conduct additional molecular and genetic research

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“…The most common clinical features of NCLs include epileptic seizures, progressive regression of intelligence, loss of motor function, retinal degeneration, and premature death (Haltia and Goebel, 2013; Mink et al, 2013; Warrier et al, 2013; De Silva et al, 2015). NCL is one of the most frequent classes of childhood-onset neurodegenerative diseases with prevalence around 0.5–8 per 100,000 live births varying by the regions (Oishi et al, 1999; Getty and Pearce, 2011; Cotman et al, 2013; Haltia and Goebel, 2013; Beltran et al, 2018). So far there are 13 genes identified as candidate genes of NCLs, i.e., CLN1/PPT1, CLN2/TPP1, CLN3, CLN4/DNAJC5, CLN5, CLN6, CLN7/MFSD8, CLN8, CLN10/CTSD, CLN11/GRN, CLN12/ATP13A2, CLN13/CTSF , and CLN14/KCTD7 (Kollmann et al, 2013; Warrier et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis

et al. 2019

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Neuronal Ceroid Lipofuscinoses (NCLs) are progressive degenerative diseases mainly affect brain and retina. They are characterized by accumulation of autofluorescent storage material, mitochondrial ATPase subunit C, or sphingolipid activator proteins A and D in lysosomes of most cells. Heterogenous storage material in NCLs is not completely disease-specific. Most of CLN proteins and their natural substrates are not well-characterized. Studies have suggested variants of Late-Infantile NCLs (LINCLs) include the major type CLN2 and minor types CLN5, CLN6, CLN7, and CLN8. Therefore, combination of clinical and molecular analysis has become a more effective diagnosis method. We studied 4 late-infantile NCL siblings characterized by seizures, ataxia as early symptoms, followed by progressive regression in intelligence and behavior, but mutations are located in different genes. Symptoms and progression of 4 types of LINCLs are compared. Pathology of LINCLs is also discussed. We performed Nest-Generation Sequencing on these phenotypically similar families. Three novel variants c.1551+1insTGAT in TPP1, c.244G>T in CLN6, c.554-5A>G in MFSD8 were identified. Potential outcome of the mutations in structure and function of proteins are studied. In addition, we observed some common and unique clinical features of Chinese LINCL patient as compared with those of Western patients, which greatly improved our understanding of the LINCLs.

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Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers

Cited by 16 publications

References 17 publications

Management of CLN1 Disease: International Clinical Consensus

Management of CLN1 Disease: International Clinical Consensus

A clinical case of neuronal ceroid lipofuscinosis type 2

Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis

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