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Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

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Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. / Mole, Sara E; Anderson, Glenn; Band, Heather A; Berkovic, Samuel F; Cooper, Jonathan D; Kleine Holthaus, Sophia-Martha; McKay, Tristan R; Medina, Diego L; Rahim, Ahad A; Schulz, Angela; Smith, Alexander J.

In: LANCET NEUROL, Vol. 18, No. 1, 01.2019, p. 107-116.

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

Harvard

Mole, SE, Anderson, G, Band, HA, Berkovic, SF, Cooper, JD, Kleine Holthaus, S-M, McKay, TR, Medina, DL, Rahim, AA, Schulz, A & Smith, AJ 2019, 'Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis', LANCET NEUROL, vol. 18, no. 1, pp. 107-116. https://doi.org/10.1016/S1474-4422(18)30368-5, https://doi.org/10.1016/S1474-4422(18)30368-5

APA

Mole, S. E., Anderson, G., Band, H. A., Berkovic, S. F., Cooper, J. D., Kleine Holthaus, S-M., McKay, T. R., Medina, D. L., Rahim, A. A., Schulz, A., & Smith, A. J. (2019). Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. LANCET NEUROL, 18(1), 107-116. https://doi.org/10.1016/S1474-4422(18)30368-5, https://doi.org/10.1016/S1474-4422(18)30368-5

Vancouver

Mole SE, Anderson G, Band HA, Berkovic SF, Cooper JD, Kleine Holthaus S-M et al. Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. LANCET NEUROL. 2019 Jan;18(1):107-116. https://doi.org/10.1016/S1474-4422(18)30368-5, https://doi.org/10.1016/S1474-4422(18)30368-5

Bibtex

@article{27bb974996c24063bcfc317995a2c58b,
title = "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 ceroid lipofuscinoses, and for the development of targeted therapies. These targeted therapies include enzyme replacement therapies, gene therapies targeting the brain and the eye, cell therapies, and pharmacological drugs that could modulate defective molecular pathways. Such therapeutic developments have the potential to enable earlier diagnosis and better targeted therapeutic management. The first approved treatment is an intracerebroventricularly administered enzyme for neuronal ceroid lipofuscinosis type 2 disease that delays symptom progression. Efforts are underway to make similar progress for other forms of the disorder.",
keywords = "Journal Article, Review",
author = "Mole, {Sara E} and Glenn Anderson and Band, {Heather A} and Berkovic, {Samuel F} and Cooper, {Jonathan D} and {Kleine Holthaus}, Sophia-Martha and McKay, {Tristan R} and Medina, {Diego L} and Rahim, {Ahad A} and Angela Schulz and Smith, {Alexander J}",
note = "Copyright {\textcopyright} 2019 Elsevier Ltd. All rights reserved.",
year = "2019",
month = jan,
doi = "10.1016/S1474-4422(18)30368-5",
language = "English",
volume = "18",
pages = "107--116",
journal = "LANCET NEUROL",
issn = "1474-4422",
publisher = "Lancet Publishing Group",
number = "1",

}

RIS

TY - JOUR

T1 - Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

AU - Mole, Sara E

AU - Anderson, Glenn

AU - Band, Heather A

AU - Berkovic, Samuel F

AU - Cooper, Jonathan D

AU - Kleine Holthaus, Sophia-Martha

AU - McKay, Tristan R

AU - Medina, Diego L

AU - Rahim, Ahad A

AU - Schulz, Angela

AU - Smith, Alexander J

N1 - Copyright © 2019 Elsevier Ltd. All rights reserved.

PY - 2019/1

Y1 - 2019/1

N2 - 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 ceroid lipofuscinoses, and for the development of targeted therapies. These targeted therapies include enzyme replacement therapies, gene therapies targeting the brain and the eye, cell therapies, and pharmacological drugs that could modulate defective molecular pathways. Such therapeutic developments have the potential to enable earlier diagnosis and better targeted therapeutic management. The first approved treatment is an intracerebroventricularly administered enzyme for neuronal ceroid lipofuscinosis type 2 disease that delays symptom progression. Efforts are underway to make similar progress for other forms of the disorder.

AB - 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 ceroid lipofuscinoses, and for the development of targeted therapies. These targeted therapies include enzyme replacement therapies, gene therapies targeting the brain and the eye, cell therapies, and pharmacological drugs that could modulate defective molecular pathways. Such therapeutic developments have the potential to enable earlier diagnosis and better targeted therapeutic management. The first approved treatment is an intracerebroventricularly administered enzyme for neuronal ceroid lipofuscinosis type 2 disease that delays symptom progression. Efforts are underway to make similar progress for other forms of the disorder.

KW - Journal Article

KW - Review

U2 - 10.1016/S1474-4422(18)30368-5

DO - 10.1016/S1474-4422(18)30368-5

M3 - SCORING: Review article

C2 - 30470609

VL - 18

SP - 107

EP - 116

JO - LANCET NEUROL

JF - LANCET NEUROL

SN - 1474-4422

IS - 1

ER -