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Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke

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Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke. / Roos, Jessica; Müller, Stefanie; Giese, Anne; Appenzeller, Silke; Ringelstein, Erich Bernd; Fiehler, Jens; Berger, Klaus; Rolfs, Arndt; Hagel, Christian; Kuhlenbäumer, Gregor.

In: J NEUROL, Vol. 270, No. 5, 05.2023, p. 2631-2639.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Roos, J, Müller, S, Giese, A, Appenzeller, S, Ringelstein, EB, Fiehler, J, Berger, K, Rolfs, A, Hagel, C & Kuhlenbäumer, G 2023, 'Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke', J NEUROL, vol. 270, no. 5, pp. 2631-2639. https://doi.org/10.1007/s00415-023-11590-9

APA

Roos, J., Müller, S., Giese, A., Appenzeller, S., Ringelstein, E. B., Fiehler, J., Berger, K., Rolfs, A., Hagel, C., & Kuhlenbäumer, G. (2023). Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke. J NEUROL, 270(5), 2631-2639. https://doi.org/10.1007/s00415-023-11590-9

Vancouver

Roos J, Müller S, Giese A, Appenzeller S, Ringelstein EB, Fiehler J et al. Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke. J NEUROL. 2023 May;270(5):2631-2639. https://doi.org/10.1007/s00415-023-11590-9

Bibtex

@article{fb5770de0b5f4cbfa31a711aadedfeb0,
title = "Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke",
abstract = "BACKGROUND: (1) Description of clinical and cranial MRI features in the original Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy (PADMAL) family and correlation with the segregation analysis of the causative collagen 4A1 gene (COL4A1) variant. (2) Sequence analysis of the COL4A1 miRNA-binding site containing the causative variant in two independent cross-sectional samples of sporadic stroke patients.PATIENTS AND METHODS: Sanger sequencing of the COL4A1 miRNA-binding site in the PADMAL family and 874 sporadic stroke patients.RESULTS: PADMAL shows adult-onset usually between 30 and 50 years of age with initial brainstem-related symptoms most commonly dysarthria, with progression to dementia and tetraparesis. Radiologically pontine lacunes are followed by supratentorial white matter involvement. Radiological onset may precede clinical symptoms. We found no variants in the COL4A1 miRNA-binding site of sporadic stroke patients.CONCLUSION: Our results allow an early diagnosis of PADMAL based on cranial MRI, clinical signs, and confirmatory sequencing of the COL4A1 miRNA-29-binding site. COL4A1 miRNA-29-binding site variants do not contribute to a sizeable proportion of sporadic stroke.",
author = "Jessica Roos and Stefanie M{\"u}ller and Anne Giese and Silke Appenzeller and Ringelstein, {Erich Bernd} and Jens Fiehler and Klaus Berger and Arndt Rolfs and Christian Hagel and Gregor Kuhlenb{\"a}umer",
note = "{\textcopyright} 2023. The Author(s).",
year = "2023",
month = may,
doi = "10.1007/s00415-023-11590-9",
language = "English",
volume = "270",
pages = "2631--2639",
journal = "J NEUROL",
issn = "0340-5354",
publisher = "D. Steinkopff-Verlag",
number = "5",

}

RIS

TY - JOUR

T1 - Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke

AU - Roos, Jessica

AU - Müller, Stefanie

AU - Giese, Anne

AU - Appenzeller, Silke

AU - Ringelstein, Erich Bernd

AU - Fiehler, Jens

AU - Berger, Klaus

AU - Rolfs, Arndt

AU - Hagel, Christian

AU - Kuhlenbäumer, Gregor

N1 - © 2023. The Author(s).

PY - 2023/5

Y1 - 2023/5

N2 - BACKGROUND: (1) Description of clinical and cranial MRI features in the original Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy (PADMAL) family and correlation with the segregation analysis of the causative collagen 4A1 gene (COL4A1) variant. (2) Sequence analysis of the COL4A1 miRNA-binding site containing the causative variant in two independent cross-sectional samples of sporadic stroke patients.PATIENTS AND METHODS: Sanger sequencing of the COL4A1 miRNA-binding site in the PADMAL family and 874 sporadic stroke patients.RESULTS: PADMAL shows adult-onset usually between 30 and 50 years of age with initial brainstem-related symptoms most commonly dysarthria, with progression to dementia and tetraparesis. Radiologically pontine lacunes are followed by supratentorial white matter involvement. Radiological onset may precede clinical symptoms. We found no variants in the COL4A1 miRNA-binding site of sporadic stroke patients.CONCLUSION: Our results allow an early diagnosis of PADMAL based on cranial MRI, clinical signs, and confirmatory sequencing of the COL4A1 miRNA-29-binding site. COL4A1 miRNA-29-binding site variants do not contribute to a sizeable proportion of sporadic stroke.

AB - BACKGROUND: (1) Description of clinical and cranial MRI features in the original Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy (PADMAL) family and correlation with the segregation analysis of the causative collagen 4A1 gene (COL4A1) variant. (2) Sequence analysis of the COL4A1 miRNA-binding site containing the causative variant in two independent cross-sectional samples of sporadic stroke patients.PATIENTS AND METHODS: Sanger sequencing of the COL4A1 miRNA-binding site in the PADMAL family and 874 sporadic stroke patients.RESULTS: PADMAL shows adult-onset usually between 30 and 50 years of age with initial brainstem-related symptoms most commonly dysarthria, with progression to dementia and tetraparesis. Radiologically pontine lacunes are followed by supratentorial white matter involvement. Radiological onset may precede clinical symptoms. We found no variants in the COL4A1 miRNA-binding site of sporadic stroke patients.CONCLUSION: Our results allow an early diagnosis of PADMAL based on cranial MRI, clinical signs, and confirmatory sequencing of the COL4A1 miRNA-29-binding site. COL4A1 miRNA-29-binding site variants do not contribute to a sizeable proportion of sporadic stroke.

U2 - 10.1007/s00415-023-11590-9

DO - 10.1007/s00415-023-11590-9

M3 - SCORING: Journal article

C2 - 36786861

VL - 270

SP - 2631

EP - 2639

JO - J NEUROL

JF - J NEUROL

SN - 0340-5354

IS - 5

ER -