Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient

Research output: Contribution to journalJournal articleResearchpeer-review

Standard

Hypomyelinating Leukodystrophy due to HSPD1 Mutations : A New Patient. / Kusk, Maria Schioldan; Damgaard, Bodil; Risom, Lotte; Hansen, Bente; Ostergaard, Elsebet.

In: Neuropediatrics, Vol. 47, No. 5, 10.2016, p. 332-335.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Kusk, MS, Damgaard, B, Risom, L, Hansen, B & Ostergaard, E 2016, 'Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient', Neuropediatrics, vol. 47, no. 5, pp. 332-335. https://doi.org/10.1055/s-0036-1584564

APA

Kusk, M. S., Damgaard, B., Risom, L., Hansen, B., & Ostergaard, E. (2016). Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient. Neuropediatrics, 47(5), 332-335. https://doi.org/10.1055/s-0036-1584564

Vancouver

Kusk MS, Damgaard B, Risom L, Hansen B, Ostergaard E. Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient. Neuropediatrics. 2016 Oct;47(5):332-335. https://doi.org/10.1055/s-0036-1584564

Author

Kusk, Maria Schioldan ; Damgaard, Bodil ; Risom, Lotte ; Hansen, Bente ; Ostergaard, Elsebet. / Hypomyelinating Leukodystrophy due to HSPD1 Mutations : A New Patient. In: Neuropediatrics. 2016 ; Vol. 47, No. 5. pp. 332-335.

Bibtex

@article{517e77a7cdfd4567bd02e73c68b3a8a4,
title = "Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient",
abstract = "The hypomyelinating leukodystrophies (HMLs) encompass the X-linked Pelizaeus-Merzbacher disease (PMD) caused by PLP1 mutations and known as the classical form of HML as well as Pelizaeus-Merzbacher-like disease (PMLD) (Online Mendelian Inheritance in Man [OMIM] 608804 and OMIM 260600) due to GJC2 mutations. In addition, mutations in at least 10 other genes are known to cause HMLs. In 2008, an Israeli family with clinical and neuroimaging findings similar to those found in PMD was reported. The patients were found to have a homozygous missense mutation in HSPD1, encoding the mitochondrial heat-shock protein 60 (Hsp60), and the disorder was defined as the autosomal recessive mitochondrial Hsp60 chaperonopathy (MitCHAP-60) disease. We here report the first case of this severe neurodegenerative disease since it was first described. Given the fact that the families carried the same mutation our patient probably belongs to the same extended family as the Israeli family. In conclusion, the MitCHAP-60 disease should be considered as a rare differential diagnosis in HML.",
keywords = "Brain, Chaperonin 60, Child, Preschool, Homozygote, Humans, Magnetic Resonance Imaging, Male, Mitochondrial Proteins, Mutation, Missense, Pelizaeus-Merzbacher Disease, Case Reports, Journal Article",
author = "Kusk, {Maria Schioldan} and Bodil Damgaard and Lotte Risom and Bente Hansen and Elsebet Ostergaard",
note = "Georg Thieme Verlag KG Stuttgart · New York.",
year = "2016",
month = "10",
doi = "10.1055/s-0036-1584564",
language = "English",
volume = "47",
pages = "332--335",
journal = "Neuropediatrics",
issn = "0174-304X",
publisher = "GeorgThieme Verlag",
number = "5",

}

RIS

TY - JOUR

T1 - Hypomyelinating Leukodystrophy due to HSPD1 Mutations

T2 - A New Patient

AU - Kusk, Maria Schioldan

AU - Damgaard, Bodil

AU - Risom, Lotte

AU - Hansen, Bente

AU - Ostergaard, Elsebet

N1 - Georg Thieme Verlag KG Stuttgart · New York.

PY - 2016/10

Y1 - 2016/10

N2 - The hypomyelinating leukodystrophies (HMLs) encompass the X-linked Pelizaeus-Merzbacher disease (PMD) caused by PLP1 mutations and known as the classical form of HML as well as Pelizaeus-Merzbacher-like disease (PMLD) (Online Mendelian Inheritance in Man [OMIM] 608804 and OMIM 260600) due to GJC2 mutations. In addition, mutations in at least 10 other genes are known to cause HMLs. In 2008, an Israeli family with clinical and neuroimaging findings similar to those found in PMD was reported. The patients were found to have a homozygous missense mutation in HSPD1, encoding the mitochondrial heat-shock protein 60 (Hsp60), and the disorder was defined as the autosomal recessive mitochondrial Hsp60 chaperonopathy (MitCHAP-60) disease. We here report the first case of this severe neurodegenerative disease since it was first described. Given the fact that the families carried the same mutation our patient probably belongs to the same extended family as the Israeli family. In conclusion, the MitCHAP-60 disease should be considered as a rare differential diagnosis in HML.

AB - The hypomyelinating leukodystrophies (HMLs) encompass the X-linked Pelizaeus-Merzbacher disease (PMD) caused by PLP1 mutations and known as the classical form of HML as well as Pelizaeus-Merzbacher-like disease (PMLD) (Online Mendelian Inheritance in Man [OMIM] 608804 and OMIM 260600) due to GJC2 mutations. In addition, mutations in at least 10 other genes are known to cause HMLs. In 2008, an Israeli family with clinical and neuroimaging findings similar to those found in PMD was reported. The patients were found to have a homozygous missense mutation in HSPD1, encoding the mitochondrial heat-shock protein 60 (Hsp60), and the disorder was defined as the autosomal recessive mitochondrial Hsp60 chaperonopathy (MitCHAP-60) disease. We here report the first case of this severe neurodegenerative disease since it was first described. Given the fact that the families carried the same mutation our patient probably belongs to the same extended family as the Israeli family. In conclusion, the MitCHAP-60 disease should be considered as a rare differential diagnosis in HML.

KW - Brain

KW - Chaperonin 60

KW - Child, Preschool

KW - Homozygote

KW - Humans

KW - Magnetic Resonance Imaging

KW - Male

KW - Mitochondrial Proteins

KW - Mutation, Missense

KW - Pelizaeus-Merzbacher Disease

KW - Case Reports

KW - Journal Article

U2 - 10.1055/s-0036-1584564

DO - 10.1055/s-0036-1584564

M3 - Journal article

C2 - 27405012

VL - 47

SP - 332

EP - 335

JO - Neuropediatrics

JF - Neuropediatrics

SN - 0174-304X

IS - 5

ER -

ID: 177128317