A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists?

Glicksman, Stephen; Borgen, C.; Blackstein, M.; Gordon, Andrea; Hanon, I.; Kusin, D.; Leibowitz, Brian J.; Halle, James W.

doi:10.1111/j.1365-2788.2012.01576.x

Cited by 3 publications

(4 citation statements)

References 66 publications

(123 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In addition to the accumulated medical research on CD, parent and family community support has been increasing. Internet forum or family websites are also meaningful for CD patients . The prognosis of childhood CD has gradually improved due to advances in comprehensive care.…”

Section: Resultsmentioning

confidence: 99%

“…Internet forum or family websites are also meaningful for CD patients. 19 The prognosis of childhood CD has gradually improved due to advances in comprehensive care. Future research will hopefully facilitate development of a safe and therapeutic approach for CD patients and improve their quality of life.…”

Section: Resultsmentioning

confidence: 99%

“…More than 50 mutations have been identified in the human ASPA gene, most of which are single base pair changes in the coding region that typically result in the loss of ASPA enzymatic activity. While all patients in whom mutations have been detected have exhibited psychomotor limitations, their onset and severity varied depending on the specific mutation …”

Section: Molecular Basis Of CDmentioning

confidence: 99%

“…While all patients in whom mutations have been detected have exhibited psychomotor limitations, their onset and severity varied depending on the specific mutation. 18,19 Japanese case of CD Our questionnaire survey identified only one CD patient in Japan, and this is also the only case that has been reported with the missense mutation I143T. [20][21][22] The patient, a woman, is now 26 years old.…”

Section: Molecular Basis Of CDmentioning

confidence: 99%

See 3 more Smart Citations

Canavan disease: Clinical features and recent advances in research

Hoshino

Kubota

2014

Pediatrics International

View full text Add to dashboard Cite

Canavan disease (CD) is a genetic neurodegenerative leukodystrophy that results in the spongy degeneration of white matter in the brain. CD is characterized by mutations in the gene encoding aspartoacylase (ASPA), the substrate enzyme that hydrolyzes N-acetylaspartic acid (NAA) to acetate and aspartate. Elevated NAA and subsequent deficiency in acetate associated with this disease cause progressive neurological symptoms, such as macrocephaly, visuocognitive dysfunction, and psychomotor delay. The prevalence of CD is higher among Ashkenazi Jewish people, and several types of mutations have been reported in the gene coding ASPA. Highly elevated NAA is more specific to CD than other leukodystrophies, and an examination of urinary NAA concentration is useful for diagnosing CD. Many researchers are now examining the mechanisms responsible for white matter degeneration or dysmyelination in CD using mouse models, and several persuasive hypotheses have been suggested for the pathophysiology of CD. One is that NAA serves as a water pump; consequently, a disorder in NAA catabolism leads to astrocytic edema. Another hypothesis is that the hydrolyzation of NAA in oligodendrocytes is essential for myelin synthesis through the supply of acetate. Although there is currently no curative therapy for CD, dietary supplements are candidates that may retard the progression of the symptoms associated with CD. Furthermore, gene therapies using viral vectors have been investigated using rat models. These therapies have been found to be tolerable with no severe long-term adverse effects, reduce the elevated NAA in the brain, and may be applied to humans in the future.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Molecular Basis Of CDmentioning

confidence: 99%

Section: Molecular Basis Of CDmentioning

confidence: 99%

See 2 more Smart Citations

Canavan disease: Clinical features and recent advances in research

Hoshino

Kubota

2014

Pediatrics International

View full text Add to dashboard Cite

show abstract

Aspartoacylase: a central nervous system enzyme. Structure, catalytic activity and regulation mechanisms

Kots¹,

Khrenova²,

Nemukhin³

et al. 2019

Russ. Chem. Rev.

View full text Add to dashboard Cite

Aspartoacylase is a key enzyme in the human central nervous system. Catalytic deficiency of aspartoacylase is associated with several neurodegenerative disorders, which accounts for the enhanced interest in description of the catalytic action and regulatory mechanisms of this enzyme. This review focuses on molecular modelling of the catalytic function of aspartoacylase and the ways of its allosteric regulation in terms of modern theoretical chemistry approaches. The conclusions based on experimental data on the structure and functions of aspartoacylase accumulated during the last 20 years and conclusions drawn from computer modelling results of the last 5 years are analyzed in detail. The bibliography includes 109 references.

show abstract

Speciální pedagogika osob s omezením pohyblivosti a koncept praxe založené na důkazech

Jiří

2023

View full text Add to dashboard Cite

JBIúrazy astma GRADE Cambell inkluze diabetes účinnost epilepsie Cochrane rehabilitace komunikace mapy důkazů tvorba důkazů podpora rodin portály důkazů mozková obrna syntéza důkazů vědecké důkazy transfer důkazů souhrny důkazů tělesná postižení výzkumné studie disability studies benefi ty pro žáky zdravotní oslabení odpovědná rozvaha systematická review doporučené postupy asistivní technologie roztroušená skleróza rizika absence důkazů pedagogické strategie implementace důkazů smysluplnost intervencí interprofesní spolupráce onkologická onemocnění Jiří Kantor a kol. pedagogika Speciální osob s omezením pohyblivosti a koncept praxe založené na důkazech Olomouc 2023 Univerzita Palackého v Olomouci Jiří Kantor a kol. SPECIÁLNÍ PEDAGOGIKA osob s omezením pohyblivosti a koncept praxe založené na důkazechVydání této publikace bylo podpořeno následujícími projekty:IGA -Výzkum inkluze u jedinců se speciálními vzdělávacími potřebami (IGA_PdF_2021_024) Evidence synthesis in special education and arts therapies (DSGC-2021-0145).Koncept evidence-based practice ve speciální pedagogice a uměleckých terapiích, PdF_2022_001.

show abstract

A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists?

Cited by 3 publications

References 66 publications

Canavan disease: Clinical features and recent advances in research

Canavan disease: Clinical features and recent advances in research

Aspartoacylase: a central nervous system enzyme. Structure, catalytic activity and regulation mechanisms

Speciální pedagogika osob s omezením pohyblivosti a koncept praxe založené na důkazech

Contact Info

Product

Resources

About