Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase A. MLD is a heterogeneous disease with variable age at onset and variable clinical features. We evaluated a 33-year-old female patient who developed manifestations of disinhibitory behavior. She was diagnosed with MLD by genetic analysis, which revealed compound heterozygous ARSA missense mutations (p.G99D and p.T409I). The same combination of mutations was previously reported in a Japanese patient with similar symptoms. We performed additional, detailed neuropsychological tests with functional imaging on the current patient that demonstrated frontal lobe dysfunction. These results indicate that the mutations have important implications for genotype-phenotype correlation in MLD.
Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Takehiro
T
Hayashi
Masayuki
M
Nakamura
Mio
M
Ichiba
Mieko
M
Matsuda
Maiko
M
Kato
Nari
N
Shiokawa
Hirochika
H
Shimo
Akiyuki
A
Tomiyasu
Satsuki
S
Mori
Yoko
Y
Tomiyasu
Takanori
T
Ishizuka
Yukie
Y
Inamori
Yuji
Y
Okamoto
Fujio
F
Umehara
Kimiyoshi
K
Arimura
Yoshiaki
Y
Nakabeppu
Akira
A
Sano
D000328:Adult; D001921:Brain / Q000473:pathology; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense / Q000235:genetics*
D002553:Cerebroside-Sulfatase