A case of pigmentary orthochromatic leukodystrophy with findings of proton MR spectroscopy and serial brain MRIs

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Can Present as Frontotemporal Dementia Syndrome

“…All cases had progressive deterioration, fulfilling the first criteria for bvFTD according to 2011 criteria [10] ; 14 cases had 3 or more of 6 clinically discriminating features, fulfilling the criteria for possible bvFTD [3, 6, 7, 10-12, 18, 20, 23, 27, 28, 33, 36] ; 9 cases had 3 features [6,7,18,20,23,27,33,36] , 4 cases had 4 features [3,11,12,28] and our case had 5 features. Of these 14 cases, 6 went on to fulfill criteria for probable bvFTD with imaging consistent with bvFTD (frontal and/or temporal atrophy on CT or MRI, or frontal hypoperfusion or hypometabolism on SPECT or PET) and significant functional decline [7,10,12,23,28,33] . These cases also fulfilled the requirement for possible or probable bvFTD diagnoses that other non-degenerative nervous system, medical or psychiatric disorders could not better account for the disease, and the requirement for probable bvFTD diagnosis that biomarkers indicative of another neurodegenerative process were absent [10] .…”

“…From a total of five 1998 core features [9] , the mean number of core features exhibited was 2.0 8 1.6 (n = 52); 3 cases had all 5 core features [11,12,23] and 10 cases had 4 core features [3,4,6,7,27,30,33,36] . The most common core feature was insidious onset and gradual progression.…”

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases

“…To date, 28 mutations in the CSF1R gene have been reported, mainly in European, American, and Australian families in patients of Caucasian descent, and only in Japanese families for Asian descent [10,12]. Even though Sohn et al have reported a Korean case with brain biopsy proven POLD [19], to the best of our knowledge, these are the first documented Korean cases with autopsy-proven ALSP with an associated CSF1R gene mutation. The p.A781V mutation detected in cases 1 and 3 has been previously seen in UK and German families, but pathological examinations were not performed in those cases [10,16].…”

1H-MR spectroscopy of adult-onset autosomal dominant leukodystrophy with autonomic symptoms

“…A number of leukodystrophies have been studied with MRS [15,16,[19][20][21][22][23][24]. Sometimes results are presented as concentrations in millimolar measured against tissue water and sometimes as quotes against Cr.…”