Frontotemporal dementia and amyotrophic lateral sclerosis [DS:H02342] Amyotrophic lateral sclerosis and Parkinsonism-dementia complex (ALSPDC)
Description
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by a progressive degeneration of motor neurons in the brain and spinal cord. In 90% of patients, ALS is sporadic, with no clear genetic linkage. On the other hand, the remaining 10% of cases show familial inheritance, with mutations in SOD1, TDP43(TARDBP), FUS, or C9orf72 genes being the most frequent causes. In spite of such difference, familial ALS and sporadic ALS have similarities in their pathological features. Proposed disease mechanisms contributing to motor neuron degeneration in ALS are: impaired proteostasis, aberrant RNA processing, mitochondrial disfunction and oxidative stress, microglia activation, and axonal dysfunction.
Category
Neurodegenerative disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Motor neuron diseases or related disorders
8B60 Motor neuron disease
H00058 Amyotrophic lateral sclerosis (ALS)
Pathway-based classification of diseases [BR:br08402]
Replication, repair and transcription
nt06547 Spliceosome
H00058 Amyotrophic lateral sclerosis (ALS)
Signal transduction
nt06543 NRG-ERBB signaling
H00058 Amyotrophic lateral sclerosis (ALS)
Cellular process
nt06515 Regulation of kinetochore-microtubule interactions
H00058 Amyotrophic lateral sclerosis (ALS)
nt06534 Unfolded protein response
H00058 Amyotrophic lateral sclerosis (ALS)
nt06532 Autophagy
H00058 Amyotrophic lateral sclerosis (ALS)
nt06536 Mitophagy
H00058 Amyotrophic lateral sclerosis (ALS)
nt06541 Cytoskeleton in neurons
H00058 Amyotrophic lateral sclerosis (ALS)
nt06545 Cornified envelope formation
H00058 Amyotrophic lateral sclerosis (ALS)
Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure O, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H
Title
Mutations of optineurin in amyotrophic lateral sclerosis.
Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, Murray ME, Kato M, Fryer JD, Petrucelli L, Zinman L, Weintraub S, Mesulam M, Keith J, Zivkovic SA, Hirsch-Reinshagen V, Roos RP, Zuchner S, Graff-Radford NR, Petersen RC, Caselli RJ, Wszolek ZK, Finger E, Lippa C, Lacomis D, Stewart H, Dickson DW, Kim HJ, Rogaeva E, Bigio E, Boylan KB, Taylor JP, Rademakers R
Title
TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.
Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuss A, Kolbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Topf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Hoke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bonnemann CG
Title
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu SN, Matsuda Y, Matsuura S, Nakamori M, Nishiyama A, Izumi R, Niihori T, Ogasawara M, Eura N, Kato T, Yokomura M, Nakayama Y, Ito H, Nakamura M, Saito K, Riku Y, Iwasaki Y, Maruyama H, Aoki Y, Nishino I, Izumi Y, Aoki M, Kawakami H
Title
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Distal myopathies (MPD) are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical presentation is characterized by progressive muscular weakness and atrophy beginning in the hands, forearm, lower legs or feet. Currently almost 20 different entities of distal muscular dystrophies have been genetically determined. Half of the genes have been associated with distal phenotypes only, whereas the other genes can manifest also with other than distal phenotypes. Most of the genes code for structural and functional components of the sarcomere. The genes responsible for the pathologically defined category of myofibrillar myopathy are frequently display a distal phenotype.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C75 Distal myopathies
H00594 Distal myopathy
Pathway-based classification of diseases [BR:br08402]
Replication, repair and transcription
nt06547 Spliceosome
H00594 Distal myopathy
Cellular process
nt06532 Autophagy
H00594 Distal myopathy
nt06536 Mitophagy
H00594 Distal myopathy
nt06539 Cytoskeleton in muscle cells
H00594 Distal myopathy
nt06546 IgSF CAM signaling
H00594 Distal myopathy
Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr
Title
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R
Title
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.
Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S
Title
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
Hackman P, Rusanen SM, Johari M, Vihola A, Jonson PH, Sarparanta J, Donner K, Lahermo P, Koivunen S, Luque H, Soininen M, Mahjneh I, Auranen M, Arumilli M, Savarese M, Udd B
Title
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.
Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schoffler W, van der Ven PFM, Furst DO, Song J, Djinovic-Carugo K, Penttila S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG
Title
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO
Title
ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
Johari M, Sarparanta J, Vihola A, Jonson PH, Savarese M, Jokela M, Torella A, Piluso G, Said E, Vella N, Cauchi M, Magot A, Magri F, Mauri E, Kornblum C, Reimann J, Stojkovic T, Romero NB, Luque H, Huovinen S, Lahermo P, Donner K, Comi GP, Nigro V, Hackman P, Udd B
Title
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a rare disorder characterized by progressive degeneration of muscle, brain, motor neurons and bone. Some cases are caused by mutations in the VCP gene, which encodes the AAA+ ATPase, a ubiquitin-dependent segregase. Recently, pathogenic mutations have been defined in heterogeneous nuclear ribonucleoproteins (hnRNPs) A2B1 and A1.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Nonorgan specific systemic autoimmune disorders
4A41 Idiopathic inflammatory myopathy
H02031 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Pathway-based classification of diseases [BR:br08402]
Replication, repair and transcription
nt06509 DNA replication
H02031 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
nt06547 Spliceosome
H02031 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP
Title
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
