Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias


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This analysis identified 29 ALS risk loci, 22 of which were new. That number seemed low to Desikan. Indeed, a recent paper reported slower axonal transport in neurons derived from healthy MAPTH1 carriers Beevers et al. To dissect potential effects of the shared SNPs, the authors looked for expression quantitative trait loci that associated with them. These distinct effects on expression, and the separate inheritance of the two SNPs, suggest two independent risk factors residing in the same C9ORF72 locus.

BNIP1 encodes a protein that appears to block apoptotic suppressors and helps maintain the endoplasmic reticulum network. One study reports that it binds to the mitochondrial ubiquitin ligase RNF Tang et al. However, the human nervous system does not seem to express RNF, and the functional consequences of its binding to BNIP1 are unexplored. Geriatr Gerontol Int. Kamada M, et al. Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation.

Kachaner D, et al. Toward an integrative view of Optineurin functions. Cell Cycle. Li C, et al.

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Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China. Amyotroph Lateral Sclerosis Frontotemporal Degeneration. Pottier C, et al. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.

Trends Cell Bio. Sundaramoorthy V, et al. Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis. Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways. Liu Z, et al. Ubiquitylation of autophagy receptor Optineurin by HACE1 activates selective autophagy for tumor suppression.

Cancer Cell. Shen WC, et al. Lim J, et al. Ohtsuka S, et al. Eur J Immunol. Kang C, et al. Linares JF, et al. Cell Rep. Mizuno Y, et al. Immunoreactivities of p62, an ubiqutin-binding protein, in the spinal anterior horn cells of patients with amyotrophic lateral sclerosis. J Neurol Sci. Neuronal and glial inclusions in frontotemporal dementia with or without motor neuron disease are immunopositive for p Hiji M, et al. White matter lesions in the brain with frontotemporal lobar degeneration with motor neuron disease: TDPimmunopositive inclusions co-localize with p62, but not ubiquitin. Pan JA, et al.

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Lattante S, et al. Goode A, et al. Brady OA, et al. J Neurochem. Hadano S, et al. Kleijnen MF, et al. The ubiquitin-associated domain of hPLIC-2 interacts with the proteasome. N'Diaye EN, et al. PLIC proteins or ubiquilins regulate autophagy-dependent cell survival during nutrient starvation. EMBO Rep. Rothenberg C, et al. Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy. Deng HX, et al. Dillen L, et al. Neurobiol Aging. Wu Q, et al. Pathogenic Ubqln2 gains toxic properties to induce neuron death. Osaka M, et al.

Disturbance of proteasomal and autophagic protein degradation pathways by amyotrophic lateral sclerosis-linked mutations in ubiquilin 2. Hjerpe R, et al. Structural determinants of the cellular localization and shuttling of TDP Ubiquitinated TDP in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Scotter EL, et al. Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP species. Wang X, et al. Degradation of TDP and its pathogenic form by autophagy and the ubiquitin-proteasome system. Wang I-F, G.

ALS, Frontotemporal Dementia Have Distinct Patterns of Brain Inflammation, Study Shows

Caccamo A, et al. Reduced protein turnover mediates functional deficits in transgenic mice expressing the 25 kDa C-terminal fragment of TDP Bose JK, et al. Regulation of autophagy by neuropathological protein TDP J Biol Chem. Xia Q, et al. Li YR, et al. Stress granules as crucibles of ALS pathogenesis. J Cell Biol. Monahan Z, et al.

Stress granules at the intersection of autophagy and ALS. Brain Res. Bosco DA, et al. Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules. Colombrita C, et al. TDP is recruited to stress granules in conditions of oxidative insult. Vance C, et al. Ryu HH, et al. Autophagy regulates amyotrophic lateral sclerosis-linked fused in sarcoma-positive stress granules in neurons. Baron DM, et al. Buchan JR, et al. Thomas MG, et al. RNA granules: the good, the bad and the ugly. Cell Signal. Kim HJ, et al. Therapeutic modulation of eIF2alpha phosphorylation rescues TDP toxicity in amyotrophic lateral sclerosis disease models.

Nat Genet. Stolz A, et al. Cdc a power machine in protein degradation. Trends Biochem Sci. Chapman E, et al. The complexities of p97 function in health and disease. Mol bio Syst. Uchiyama K, Kondo H. J Biochem. Meyer H, et al. Watts GD, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Johnson JO, et al. Hubbers CU, et al. Pathological consequences of VCP mutations on human striated muscle. Schroder R, et al. Mutant valosin-containing protein causes a novel type of frontotemporal dementia.

Ann Neurol. Custer SK, et al. Ju JS, et al. Dargemont C, Ossareh-Nazari B. Krick R, et al. Ching JK, et al. Papadopoulos C, et al. Tanaka A, et al. Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin. Renton AE, et al. State of play in amyotrophic lateral sclerosis genetics. Kato S. Amyotrophic lateral sclerosis models and human neuropathology: similarities and differences.

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Genetics Tie ALS into the Frontotemporal Dementia Spectrum | ALZFORUM

Structural changes to monomeric CuZn superoxide dismutase caused by the familial amyotrophic lateral sclerosis-associated mutation A4V. Biophys J. Kabuta T, et al. Degradation of amyotrophic lateral sclerosis-linked mutant cu,Zn-superoxide dismutase proteins by macroautophagy and the proteasome. The Src c-Abl pathway is a potential therapeutic target in amyotrophic lateral sclerosis. Sci Transl Med.

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Xie Y, et al. Endolysosomal deficits augment mitochondria pathology in spinal motor neurons of asymptomatic fALS mice. Nassif M, et al. The altered autophagy mediated by TFEB in animal and cell models of amyotrophic lateral sclerosis. Am J Transl Res. Bandyopadhyay U, et al. Morimoto N, et al. Neurochem Int. Eker HK, et al. A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis. Eur J Med Genet.

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Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor. Kunita R, et al. Otomo A. None of these 4 genes contained mutations in exons or 50 base pairs past intron or exon junctions that could be causative. The 3 families studied are relatively large from an ALS standpoint. Considering that 2 separate teams recently reported families also mapping to chromosome 9p, this locus may have a significant effect on ALS and FTD research.

Bearing in mind that a rapidly growing number of families are reported to have linkage to the chromosome 9p locus, it is increasingly plausible that a single gene is responsible for the joint occurrence of the 2 diseases rather than 2 separate genes with independent mutations. It is likely that additional medium-sized families with ALS or FTD will also map to this locus and aid in the reduction of what is still a sizeable region. A promising gene lies within this reduced candidate interval, namely, the TEK gene.

This is based on its similarity to the vascular endothelial growth factor VEGF gene. Other genes in the newly defined 9p locus will be further prioritized for mutation screening by sequencing in our 3 new families with ALS, FTD, or both, particularly those genes expressed in the brain. Finding the mutation and the responsible gene would have a substantial effect on understanding the etiology of these 2 diseases. Correspondence: Guy A.

Author Contributions: Study concept and design : Valdmanis and Rouleau. Analysis and interpretation of data : Valdmanis, Dupre, and Rouleau. Drafting of the manuscript : Valdmanis. Critical revision of the manuscript for important intellectual content : Dupre, Bouchard, Camu, Salachas, Meininger, Strong, and Rouleau.

Statistical analysis : Valdmanis. Obtained funding : Rouleau. Administrative, technical, and material support : Valdmanis, Dupre, Meininger, and Rouleau. Study supervision : Bouchard, Salachas, and Rouleau. Family collection : Camu and Strong. All Rights Reserved. Figure 1. View Large Download. Table 1. PubMed Google Scholar. Save Preferences. Privacy Policy Terms of Use. This Issue. Citations View Metrics.

Original Contribution. Paul N. Rouleau, MD, PhD. Family data. Gene and locus exclusion. Back to top Article Information. Sign in to access your subscriptions Sign in to your personal account.

Introduction
Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias
Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias
Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias
Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias
Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias

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