First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations

Sato, Ryo; Inui, Tomoyuki; Endo, Wakaba; Okubo, Yukimune; Takezawa, Yusuke; Anzai, Mai; Morita, Hiroyuki; Saitsu, Hirotomo; Matsumoto, Naomichi; Haginoya, Kazuhiro

doi:10.1016/j.braindev.2016.04.007

Cited by 14 publications

(15 citation statements)

References 10 publications

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“…Mutations in CLN6, which maps to chromosome 15q21-q23, cause vLINCLs [2][3][4][5][6][7][8] . About 70 types of mutations have been reported, of which some mild ones were identified in adult-onset NCLs (Kuf's disease type A) lacking visual impairment [2][3][4][5][6][7][8][9] . Symptom onset occurs later than in LINCLs (18 months-9 years; outside Finland, 5-6 years) [2][3][4][5][6][7][8] .…”

Section: Discussionmentioning

confidence: 99%

“…About 70 types of mutations have been reported, of which some mild ones were identified in adult-onset NCLs (Kuf's disease type A) lacking visual impairment [2][3][4][5][6][7][8][9] . Symptom onset occurs later than in LINCLs (18 months-9 years; outside Finland, 5-6 years) [2][3][4][5][6][7][8] . Visual deficits also appear at a later age (between 3 and 8 years), and electron microscopic analysis reveals mixed curvilinear and fingerprint profiles in addition to a rectilinear complex 3,4,7) .…”

Section: Discussionmentioning

confidence: 99%

“…Visual impairment in vLINCLs caused by CLN6 mutations is observed in 50% of patients at an early stage, although it is reported in most cases at later stages 3,6,7) . However, some recent studies reported cases with preserved visual function 5,8) . In the Japanese case with vLINCL, visual function was preserved until age 12 8) .…”

Section: Discussionmentioning

confidence: 99%

“…However, some recent studies reported cases with preserved visual function 5,8) . In the Japanese case with vLINCL, visual function was preserved until age 12 8) . In our patient, visual problems were not observed on ophthalmologic exams until age 16.…”

Section: Discussionmentioning

confidence: 99%

“…Patients with vLINCL caused by CLN6 mutations experienced a later onset of http://www.cns.or.kr seizures and visual impairment than those with the classic form [5][6][7][8][9][10] . Mutations in CLN6 were originally identified in Costa Rican and Venezuelan patients and in limited populations elsewhere initially, but have more recently been documented in many other countries: Croatia, the Czech Republic, Portugal, Central and South America, the Indian subcontinent, and, less frequently, in Central and Northern Europe [5][6][7][8][9] . However, concerning Asian countries, one Chinese case of unknown phenotype was mentioned in 2011 and one Japanese case of vLINCLs without visual deficit was described in 2016 2,8) .…”

Section: Introductionmentioning

confidence: 99%

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CLN6 Mutation in a Patient with Progressive Myoclonus Epilepsy

이현경¹,

윤보애²,

김영옥³

et al. 2018

journalofthekoreanchildneurologysociety

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Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders, which are caused by the accumulation of lipopigment in lysosomes. Variant forms of late infantile NCLs (vLINCLs) characterized by a later onset of seizures and visual impairment (3-8 years) than in the classic form (2-4 years) are caused by mutations of the gene encoding ceroid lipofuscinosis neuronal protein 6 (CLN6). In a girl with progressive myoclonus epilepsy, we found heterozygous variants of CLN6 (NM_ 017882.2; NP_060352.1): c.296A>G (p.Lys99Arg) and c.307C>T (p.Arg103Trp). They were identified with whole-exome sequencing and verified with Sanger sequencing. At 7 years and 9 months, our patient had developed multiple types of seizures, prominent myoclonus with photosensitivity, regression in motor and language skills, pyramidal and extrapyramidal signs, and brain atrophy in brain images, all of which were progressive and were compatible with vLINCLs. However, this first Korean report shows no visual impairment, which resembles the previously reported Japanese case.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

CLN6 Mutation in a Patient with Progressive Myoclonus Epilepsy

이현경¹,

윤보애²,

김영옥³

et al. 2018

journalofthekoreanchildneurologysociety

View full text Add to dashboard Cite

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Myoclonus‐Ataxia Syndromes: A Diagnostic Approach

Rossi

Veen

Merello

et al. 2020

Movement Disord Clin Pract

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Background Background: A myriad of disorders combine myoclonus and ataxia. Most causes are genetic and an increasing number of genes are being associated with myoclonus-ataxia syndromes (MAS), due to recent advances in genetic techniques. A proper etiologic diagnosis of MAS is clinically relevant, given the consequences for genetic counseling, treatment, and prognosis. Objectives Objectives: To review the causes of MAS and to propose a diagnostic algorithm. Methods Methods: A comprehensive and structured literature search following PRISMA criteria was conducted to identify those disorders that may combine myoclonus with ataxia. Results Results: A total of 135 causes of combined myoclonus and ataxia were identified, of which 30 were charted as the main causes of MAS. These include four acquired entities: opsoclonus-myoclonus-ataxia syndrome, celiac disease, multiple system atrophy, and sporadic prion diseases. The distinction between progressive myoclonus epilepsy and progressive myoclonus ataxia poses one of the main diagnostic dilemmas. Conclusions Conclusions: Diagnostic algorithms for pediatric and adult patients, based on clinical manifestations including epilepsy, are proposed to guide the differential diagnosis and corresponding work-up of the most important and frequent causes of MAS. A list of genes associated with MAS to guide genetic testing strategies is provided. Priority should be given to diagnose or exclude acquired or treatable disorders.

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