TY - JOUR
T1 - Leber's hereditary optic neuropathy with the 11778 mtDNA mutation and white matter disease resembling multiple sclerosis
T2 - Clinical, MRI and MRS findings
AU - Jansen, P. H.P.
AU - Van Der Knaap, M. S.
AU - De Coo, I. F.M.
PY - 1996/2
Y1 - 1996/2
N2 - A mother and her son are reported who suffer from Leber's hereditary optic neuropathy (LHON) with the 11778 mtDNA mutation. In both subjects additional clinical and paraclinical evidence of a cerebral demyelinating disease was found. This combination has been reported incidentally in females, rarely in males. Magnetic resonance imaging and proton spectroscopy findings are reported. These findings are compatible with multiple sclerosis.
AB - A mother and her son are reported who suffer from Leber's hereditary optic neuropathy (LHON) with the 11778 mtDNA mutation. In both subjects additional clinical and paraclinical evidence of a cerebral demyelinating disease was found. This combination has been reported incidentally in females, rarely in males. Magnetic resonance imaging and proton spectroscopy findings are reported. These findings are compatible with multiple sclerosis.
KW - 11778 mitochondrial DNA mutation
KW - Leber's hereditary optic neuropathy
KW - MRI
KW - MRS
KW - Multiple sclerosis
UR - http://www.scopus.com/inward/record.url?scp=0030048236&partnerID=8YFLogxK
U2 - 10.1016/0022-510X(95)00287-C
DO - 10.1016/0022-510X(95)00287-C
M3 - Article
C2 - 8867076
AN - SCOPUS:0030048236
SN - 0022-510X
VL - 135
SP - 176
EP - 180
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
IS - 2
ER -