Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: Report of two cases

V. Carelli; M. L. Valentino; R. Liguori; S. Meletti; R. Vetrugno; F. Provini; G. L. Mancardi; F. Bandini; A. Baruzzi; P. Montagna

doi:10.1136/jnnp.71.6.813

Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: Report of two cases

V. Carelli, M. L. Valentino, R. Liguori, S. Meletti, R. Vetrugno, F. Provini, G. L. Mancardi, F. Bandini, A. Baruzzi, P. Montagna

Istituto Scienze Neurologiche

Research output: Contribution to journal › Article › peer-review

Abstract

The previously unrecognised association of myoclonus in two patients with LHON with the 11778/ND4 pathogenic mutation is described. EEG failed to disclose epileptic figures, and a back averaging study suggested that myoclonus was cortical in origin in both patients.

Original language	English
Pages (from-to)	813-816
Number of pages	4
Journal	Journal of Neurology, Neurosurgery and Psychiatry
Volume	71
Issue number	6
DOIs	https://doi.org/10.1136/jnnp.71.6.813
Publication status	Published - Dec 2001

Keywords

LHON
Mitochondria
Myoclonus

ASJC Scopus subject areas

Neuropsychology and Physiological Psychology
Neuroscience(all)
Psychiatry and Mental health

Access to Document

10.1136/jnnp.71.6.813

Cite this

Leber's hereditary optic neuropathy (LHON/11778) with myoclonus : Report of two cases. / Carelli, V.; Valentino, M. L.; Liguori, R.; Meletti, S.; Vetrugno, R.; Provini, F.; Mancardi, G. L.; Bandini, F.; Baruzzi, A.; Montagna, P.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 71, No. 6, 12.2001, p. 813-816.

Research output: Contribution to journal › Article › peer-review

@article{ab66b4fa7ca94f5982aa4932ed246426,

title = "Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: Report of two cases",

abstract = "The previously unrecognised association of myoclonus in two patients with LHON with the 11778/ND4 pathogenic mutation is described. EEG failed to disclose epileptic figures, and a back averaging study suggested that myoclonus was cortical in origin in both patients.",

keywords = "LHON, Mitochondria, Myoclonus",

author = "V. Carelli and Valentino, {M. L.} and R. Liguori and S. Meletti and R. Vetrugno and F. Provini and Mancardi, {G. L.} and F. Bandini and A. Baruzzi and P. Montagna",

year = "2001",

month = dec,

doi = "10.1136/jnnp.71.6.813",

language = "English",

volume = "71",

pages = "813--816",

journal = "Journal of Neurology, Neurosurgery and Psychiatry",

issn = "0022-3050",

publisher = "BMJ Publishing Group",

number = "6",

}

TY - JOUR

T1 - Leber's hereditary optic neuropathy (LHON/11778) with myoclonus

T2 - Report of two cases

AU - Carelli, V.

AU - Valentino, M. L.

AU - Liguori, R.

AU - Meletti, S.

AU - Vetrugno, R.

AU - Provini, F.

AU - Mancardi, G. L.

AU - Bandini, F.

AU - Baruzzi, A.

AU - Montagna, P.

PY - 2001/12

Y1 - 2001/12

N2 - The previously unrecognised association of myoclonus in two patients with LHON with the 11778/ND4 pathogenic mutation is described. EEG failed to disclose epileptic figures, and a back averaging study suggested that myoclonus was cortical in origin in both patients.

AB - The previously unrecognised association of myoclonus in two patients with LHON with the 11778/ND4 pathogenic mutation is described. EEG failed to disclose epileptic figures, and a back averaging study suggested that myoclonus was cortical in origin in both patients.

KW - LHON

KW - Mitochondria

KW - Myoclonus

UR - http://www.scopus.com/inward/record.url?scp=0035209281&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035209281&partnerID=8YFLogxK

U2 - 10.1136/jnnp.71.6.813

DO - 10.1136/jnnp.71.6.813

M3 - Article

C2 - 11723211

AN - SCOPUS:0035209281

VL - 71

SP - 813

EP - 816

JO - Journal of Neurology, Neurosurgery and Psychiatry

JF - Journal of Neurology, Neurosurgery and Psychiatry

SN - 0022-3050

IS - 6

ER -

Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: Report of two cases

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this