Research & Literature

Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease.

Drenckhahn A, Schuelke M, Knierim E

Journal of inherited metabolic disease 2015; (38(5)):983-4 doi:10.1007/s10545-015-9812-1.

Canavan disease: an Arab scenario.

Zayed H

Gene 2015; (560(1)):9-14.

Atypical clinical and radiological course of a patient with Canavan disease.

Sarret C, Boespflug-Tanguy O, Rodriguez D

Metabolic brain disease 2016; (31(2)):475-9 doi:10.1007/s11011-015-9767-9.

Novel mutation in an Egyptian patient with infantile Canavan disease.

Zaki OK, El Abd HS, Mohamed SA, Zayed H

Metabolic brain disease 2016; (31(3)):573-7 doi:10.1007/s11011-015-9772-z.

Structural modeling of p.V31F variant in the aspartoacylase gene.

Krishnamoorthy N, Zayed H

Metabolic brain disease 2016; (31(3)):723-6 doi:10.1007/s11011-016-9796-z.

A case of Canavan disease with microcephaly.

Gowda VK, Bhat MD, Srinivasan VM, et al.

Brain & development 2016; (38(8)):759-62.

rAAV Gene Therapy in a Canavan's Disease Mouse Model Reveals Immune Impairments and an Extended Pathology Beyond the Central Nervous System.

Ahmed SS, Schattgen SA, Frakes AE, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2016; (24(6)):1030-1041 doi:10.1038/mt.2016.68.

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.

Merrill ST, Nelson GR, Longo N, Bonkowsky JL

Orphanet journal of rare diseases 2016; (11(1)):169 doi:10.1186/s13023-016-0549-1.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Mendes MI, Smith DE, Pop A, et al.

Human mutation 2017; (38(5)):524-531 doi:10.1002/humu.23181.

Increasing N-acetylaspartate in the Brain during Postnatal Myelination Does Not Cause the CNS Pathologies of Canavan Disease.

Appu AP, Moffett JR, Arun P, et al.

Frontiers in molecular neuroscience 2017; (10()):161 doi:10.3389/fnmol.2017.00161.

Pediatric leukodystrophies: The role of the otolaryngologist.

Kay-Rivest E, Khendek L, Bernard G, Daniel SJ

International journal of pediatric otorhinolaryngology 2017; (101()):141-144 doi:10.1016/j.ijporl.2017.07.039.

Guilt in bereavement: Its relationship with complicated grief and depression.

Li J, Tendeiro JN, Stroebe M

International journal of psychology : Journal international de psychologie 2019; (54(4)):454-461 doi:10.1002/ijop.12483.

Pathophysiology and Treatment of Canavan Disease.

Pleasure D, Guo F, Chechneva O, et al.

Neurochemical research 2020; (45(3)):561-565 doi:10.1007/s11064-018-2693-6.

Development of bisubstrate analog inhibitors of aspartate N-acetyltransferase, a critical brain enzyme.

Mutthamsetty V, Dahal GP, Wang Q, Viola RE

Chemical biology & drug design 2020; (95(1)):48-57 doi:10.1111/cbdd.13586.

A case of juvenile Canavan disease with distinct pons involvement.

Çakar NE, Aksu Uzunhan T

Brain & development 2020; (42(2)):222-225 doi:10.1016/j.braindev.2019.11.009.

Antisense Oligonucleotide Reverses Leukodystrophy in Canavan Disease Mice.

Hull V, Wang Y, Burns T, et al.

Annals of neurology 2020; (87(3)):480-485 doi:10.1002/ana.25674.

Racial/Ethnic and Insurance Status Disparities in Distance Traveled to Access Children's Hospital Care for Severe Illness: the Case of Children with Leukodystrophies.

Grineski SE, Morales DX, Collins T, et al.

Journal of racial and ethnic health disparities 2020; (7(5)):975-986 doi:10.1007/s40615-020-00722-w.

Geographic and Specialty Access Disparities in US Pediatric Leukodystrophy Diagnosis.

Grineski S, Morales DX, Collins T, et al.

The Journal of pediatrics 2020; (220()):193-199 doi:10.1016/j.jpeds.2020.01.063.

Epilepsy in children with leukodystrophies.

Zhang J, Ban T, Zhou L, et al.

Journal of neurology 2020; (267(9)):2612-2618 doi:10.1007/s00415-020-09889-y.

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.

Schmidt JL, Pizzino A, Nicholl J, et al.

American journal of medical genetics. Part A 2020; (182(8)):1906-1912 doi:10.1002/ajmg.a.61641.

Fiberoptic Endoscopic Evaluation of Swallowing Across the Age Spectrum.

Miller CK, Schroeder JW, Langmore S

American journal of speech-language pathology 2020; (29(2S)):967-978 doi:10.1044/2019_AJSLP-19-00072.

Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.

Keller SR, Mallack EJ, Rubin JP, et al.

Journal of child neurology 2021; (36(1)):65-78 doi:10.1177/0883073820946154.

Severe retinal degeneration in a patient with Canavan disease.

Benson MD, Plemel DJA, Freund PR, et al.

Ophthalmic genetics 2021; (42(1)):75-78 doi:10.1080/13816810.2020.1827441.

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Singh K, Bijarnia-Mahay S, Ramprasad VL, et al.

BMC medical genetics 2020; (21(1)):216 doi:10.1186/s12881-020-01153-4.

Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs.

Feng L, Chao J, Tian E, et al.

Advanced science (Weinheim, Baden-Wurttemberg, Germany) 2020; (7(23)):2002155 doi:10.1002/advs.202002155.

The mediating effect of social support and coping strategies on the relation between family stigma and caregiver burden among Israeli Arab family caregivers of people with Alzheimer's disease (AD).

AboJabel H, Werner P

Aging & mental health 2022; (26(8)):1597-1603 doi:10.1080/13607863.2021.1916881.

The natural history of Canavan disease: 23 new cases and comparison with patients from literature.

Bley A, Denecke J, Kohlschütter A, et al.

Orphanet journal of rare diseases 2021; (16(1)):227 doi:10.1186/s13023-020-01659-3.

Canavan Disease: Clinical and Laboratory Profile from Southern Part of India.

Gowda VK, Bharathi NK, Bettaiah J, et al.

Annals of Indian Academy of Neurology 2021; (24(3)):347-350 doi:10.4103/aian.AIAN_386_20.

Ablating the Transporter Sodium-Dependent Dicarboxylate Transporter 3 Prevents Leukodystrophy in Canavan Disease Mice.

Wang Y, Hull V, Sternbach S, et al.

Annals of neurology 2021; (90(5)):845-850 doi:10.1002/ana.26211.

Reliability of the Telemedicine Application of the Gross Motor Function Measure-88 in Patients With Leukodystrophy.

Gavazzi F, Adang L, Waldman A, et al.

Pediatric neurology 2021; (125()):34-39 doi:10.1016/j.pediatrneurol.2021.09.012.

Alexander Disease.

Hartog L, Dekeyzer S, Bossche SV

Journal of the Belgian Society of Radiology 2021; (105(1)):61 doi:10.5334/jbsr.2588.

Parents of Children With Newly Diagnosed Disorders of Sex Development Identify Major Concerns: A Qualitative Study.

Boucher NA, Alkazemi MH, Tejwani R, Routh JC

Urology 2022; (164()):218-223 doi:10.1016/j.urology.2022.01.001.

Coping and guilt in informal caregivers: a predictive model based on structural equations.

Muro Pérez-Aradros C, Navarro-Prados AB, Satorres E, et al.

Psychology, health & medicine 2023; (28(4)):819-830 doi:10.1080/13548506.2022.2029917.

Canavan's spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature.

Rossler L, Lemburg S, Weitkämper A, et al.

Journal of ultrasound 2023; (26(4)):757-764 doi:10.1007/s40477-022-00667-2.

Leukodystrophies.

Adang L

Continuum (Minneapolis, Minn.) 2022; (28(4)):1194-1216 doi:10.1212/CON.0000000000001130.

Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event.

Kotambail A, Selvam P, Muthusamy K, et al.

European journal of human genetics : EJHG 2023; (31(1)):73-80 doi:10.1038/s41431-022-01198-4.

Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene.

Bhat MD, Manjunath N, Kumari R, et al.

Journal of pediatric genetics 2022; (11(4)):267-271 doi:10.1055/s-0041-1725118.

An unusual case of a toddler with Canavan disease with frequent intractable seizures: A case report and review of the literature.

Irilouzadian R, Goudarzi A, Hesami H, et al.

SAGE open medical case reports 2023; (11()):2050313X231160885 doi:10.1177/2050313X231160885.

Renewal of oligodendrocyte lineage reverses dysmyelination and CNS neurodegeneration through corrected N-acetylaspartate metabolism.

Lotun A, Li D, Xu H, et al.

Progress in neurobiology 2023; (226()):102460 doi:10.1016/j.pneurobio.2023.102460.

Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation.

Corti M, Byrne BJ, Gessler DJ, et al.

Molecular therapy. Methods & clinical development 2023; (30()):303-314 doi:10.1016/j.omtm.2023.06.001.

[Introduction of fiberoptic endoscopic evaluation of swallowing and increase of the range of indications in our department].

Ambrus A, Rovó L, Sztanó B, et al.

Orvosi hetilap 2023; (164(46)):1817-1823 doi:10.1556/650.2023.32912.

Astroglial conditional Slc13a3 knockout is therapeutic in murine Canavan leukodystrophy.

Hull VL, Wang Y, McDonough J, et al.

Annals of clinical and translational neurology 2024; (11(4)):1059-1062 doi:10.1002/acn3.52010.

Human induced pluripotent stem cell line (SDQLCHi064-A) derived from a patient with Canavan disease carrying c.556_559dup GTTC and c.919delA mutations in the ASPA gene.

Liu N, Ge Y, Yang Y, et al.

Stem cell research 2024; (76()):103325 doi:10.1016/j.scr.2024.103325.

Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.

Grønbæk-Thygesen M, Hartmann-Petersen R

Cell & bioscience 2024; (14(1)):45 doi:10.1186/s13578-024-01224-6.

Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.

Yalcintepe S, Maras T, Kizilyar I, et al.

Molecular syndromology 2024; (15(4)):284-288 doi:10.1159/000536386.

Restoring Function in Pediatric Neurodegeneration: The Impact of Radio Electric Asymmetric Conveyor Neuroregenerative Treatment in a Child With Canavan Syndrome.

Fontani V, Rinaldi A, Rinaldi S

Cureus 2024; (16(11)):e73324 doi:10.7759/cureus.73324.

Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.

Nagy A, Eichler F, Bley A, et al.

Human gene therapy 2024; (36(1-2)):45-56 doi:10.1089/hum.2024.168.

Feasibility, Acceptability, and Reliability of Remote Motor Assessment in Children With Canavan Disease.

Kiefer M, Khan A, Leiro B, et al.

Pediatric neurology 2025; (164()):129-136 doi:10.1016/j.pediatrneurol.2025.01.006.

Experiences and needs of family caregivers for patients with End Stage Renal Disease (ESRD) in Palestine.

Shaabna Z, S Abdalrahim M, Zeilani R

BMC palliative care 2025; (24(1)):81 doi:10.1186/s12904-025-01722-5.

Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.

Weiß M, Selig M, Friedrich J, et al.

Human gene therapy 2025; (36(17-18)):1248-1256 doi:10.1089/hum.2025.006.

Implementation of a virtual dementia system of care in a VA health setting.

Powers JS

BMC geriatrics 2025; (25(1)):380 doi:10.1186/s12877-025-06034-0.

A Mild Juvenile Onset Canavan Disease With Atypical Clinical Presentation and MRI Brain Features.

Rehsi P, Siddiqui A, Singh R, et al.

JIMD reports 2025; (66(4)):e70031 doi:10.1002/jmd2.70031.

Gender differences in caregiver burden among informal caregivers of people with mental illness: A cross-sectional survey.

Hu S, Yao H, Li K, et al.

Archives of psychiatric nursing 2025; (57()):151929 doi:10.1016/j.apnu.2025.151929.

Exploring the role of parental guilt in the association between parental self-efficacy and adjustment disorder among parents of children diagnosed with cancer.

Kestler-Peleg M, Elbaz S, Kagan M

Journal of psychiatric research 2025; (190()):327-332 doi:10.1016/j.jpsychires.2025.08.011.

Oligodendrocyte-targeted adeno-associated virus gene therapy for Canavan disease in children: a phase 1/2 trial.

Leone P, Lober RM, Francis J, et al.

Nature medicine 2025; (31(11)):3772-3779 doi:10.1038/s41591-025-03919-w.

Guilt in parents of children diagnosed with hemophilia: A qualitative study.

Onel AE, Zengin D, Bal Yilmaz H

Journal of pediatric nursing 2026; (86()):51-59 doi:10.1016/j.pedn.2025.10.032.

The moderated mediation effect of caregiving stress and social support in the relationship between behavioral and psychological symptoms of dementia and caregiver burden in Oman: a cross-sectional study.

Al Ghammari A, Guo M, Al Sinawi H, et al.

BMC geriatrics 2025; (26(1)):21 doi:10.1186/s12877-025-06677-z.

Understanding Parental Burnout in Parents of ADHD Children: Development and Psychometric Analysis of a New Questionnaire.

Nejatifar S, Sharifi A, Sarami P

Child psychiatry and human development 2025; doi:10.1007/s10578-025-01933-0.