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 processes
nt06534 Unfolded protein response
H00058 Amyotrophic lateral sclerosis (ALS)
nt06532 Autophagy
H00058 Amyotrophic lateral sclerosis (ALS)
nt06536 Mitophagy
H00058 Amyotrophic lateral sclerosis (ALS)
nt06550 Lysosome biogenesis
H00058 Amyotrophic lateral sclerosis (ALS)
nt06551 Lysosome
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.
Essential tremor (ET) is a neurological disorder that is considered to be one of the most common adult-onset movement disorders. ET is typically characterized by rhythmic, involuntary shaking of one or more parts of the body, and occurs exclusively during voluntary movements (action tremor) or in positions against gravity (postural tremor). The phenotypic severity of ET is variable, as evidenced by the existence of both highly disabling and milder forms of the disease. There are three subtypes of ET, namely hereditary, sporadic, and senile, and most studies indicate that ET is a hereditary disorder in more than half of affected individuals (and presumably has autosomal-dominant inheritance). The diagnostic approach includes obtaining a history, physical examination, and laboratory tests. At present, there are no validated serologic, radiologic, or pathological markers.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Movement disorders
8A04 Disorders associated with tremor
H01577 Essential tremor
Pathway-based classification of diseases [BR:br08402]
Replication, repair and transcription
nt06547 Spliceosome
H01577 Essential tremor
Signal transduction
nt06544 Neuroactive ligand signaling
H01577 Essential tremor
Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Riviere JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupre N, Bernard G, Chouinard S, Dion PA, Rouleau GA
Title
Exome sequencing identifies FUS mutations as a cause of essential tremor.
Hor H, Francescatto L, Bartesaghi L, Ortega-Cubero S, Kousi M, Lorenzo-Betancor O, Jimenez-Jimenez FJ, Gironell A, Clarimon J, Drechsel O, Agundez JA, Kenzelmann Broz D, Chiquet-Ehrismann R, Lleo A, Coria F, Garcia-Martin E, Alonso-Navarro H, Marti MJ, Kulisevsky J, Hor CN, Ossowski S, Chrast R, Katsanis N, Pastor P, Estivill X
Title
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
