Cortical / Hippocampal / Basal ganglia / Substantia nigra
Morita, et al., 2006[3] / 1 ALS / na / 1/1 / 1/1
2 FTLD / na / 2/2 / 2/2 / 2/2
Vance, et al., 2006[4] / 4 ALS / na / Ub+ NCI inHp-df / 1/4 frontoparietal / 4/4 / 1/4 rare NFT
1 FTLD / na / Ub+NCI in Hp-df, IIIrd XIIth / frontal / 1/1 / no NFT or tau pathology
Momeni, et al., 2006[5] / 1 FTLD / na / Ub+ NCI & DN in frontal / frontotemporal / 1/1 / diffuse SP, but no NFT
Luty, et al.,
2008[6] / 1 ALS / Type 3 / motor / 1/1 / 1/1 / no SP or NFT
2 FTLD / Type 3 / frontotemporal / 1/2 / 1/2 / 0/2 / diffuse SP & rare NFT
Le Ber, et al., 2009[7] / 3 ALS / Type 3 / rare GCI in cortex superficial white matter / frontotemporal / 1/3 / 3/3 / 3/3 / mild NL in locus coeruleus
Gijselinck, et al., 2010[8] / 1 FTLD / Type 3 / superficial cortical short DN dot-like structures / frontotemporal / 1/1 / diffuse plaques & rare Hp NFT
Boxer, et al., 2010[9] / 3 FTLD / Type 3 / DN in deeper cortical layers pre-inclusions in hippocampus; rare GCI / frontotemporal, parietal;2/3occipital lobe / 3/3 / TDP-/Ub+ NCI in cerebellum and cortex
Pearson, et al., 2011[10] / 3 FTLD / Type 3 / Ub+/TDP+PurkinjeNCI / 1/3 frontal / 0/3 / 0/3 / 0/3 / 2/3 / TDP-/Ub+ cerebellar NCI and GCI
*TDP comments refer tonotable findings; cells left blank indicates that the information was not available in the text; na = not assessed; ALS – amyotrophic lateral sclerosis, FTLD – frontotemporal lobar degeneration, TDP – TAR DNA protein 43, NL – neuronal loss, MND – motor neuron disease, Ub+ – Ubiquitin positive, NCI – neuronal cytoplasmic inclusions, DN – dystrophic neurites, SC – spinal cord, SC-AH – anterior horn cells of the spinal cord, CST – corticospinal tract, SP – senile plaques, NFT – neurofibrillary tangles, Hp-df – dentate fascia of the hippocampus, HpScl – hippocampal sclerosis, BG – basal ganglia, GCI – glial cytoplasmic inclusions
References
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2.Mackenzie I, Baborie A, Pickering-Brown S, et al. (2006) Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol 112: 539-549
3.Morita M, Al-Chalabi A, Andersen PM, et al. (2006) A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 66: 839-844
4.Vance C, Al-Chalabi A, Ruddy D, et al. (2006) Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 129: 868-876
5.Momeni P, Schymick J, Jain S, et al. (2006) Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol 6: 44
6.Luty AA, Kwok JB, Thompson EM, et al. (2008) Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol 8: 32
7.Le Ber I, Camuzat A, Berger E, et al. (2009) Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Neurology 72: 1669-1676
8.Gijselinck I, Engelborghs S, Maes G, et al. (2010) Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Arch Neurol 67: 606-616
9.Boxer AL, Mackenzie IR, Boeve BF, et al. (2011) Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 82: 196-203
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