U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Jerk-locked premyoclonus spikes

MedGen UID:
765739
Concept ID:
C3552825
Finding
HPO: HP:0001351

Definition

Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG. [from HPO]

Term Hierarchy

Conditions with this feature

Epilepsy, familial adult myoclonic, 1
MedGen UID:
371424
Concept ID:
C1832841
Disease or Syndrome
Familial adult myoclonic epilepsy-1 (FAME1), also known as familial cortical myoclonic tremor associated with epilepsy-1 (FCMTE1), is characterized by autosomal dominant, adult-onset cortical myoclonus, with seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by Depienne et al., 2010). FAME1 tends to occur in patients of southern Asian descent (summary by Bennett et al., 2020). Genetic Heterogeneity of Familial Adult Myoclonic Epilepsy See also FAME2 (607876), caused by mutation in the STARD7 gene (616712) on chromosome 2q11; FAME3 (613608), caused by mutation in the MARCHF6 gene (613297) on chromosome 5p15; FAME4 (615127), which maps to chromosome 3q26.32-q28; FAME5 (615400), caused by mutation in the CNTN2 gene (190197) on chromosome 1q32; FAME6 (618074), caused by mutation in the TNRC6A gene (610739) on chromosome 16p12; and FAME7 (618075), caused by mutation in the RAPGEF2 gene (609530) on chromosome 4. Progressive myoclonic epilepsy is a more severe disorder (see, e.g., EPM1, 254800).
Epilepsy, familial adult myoclonic, 2
MedGen UID:
375031
Concept ID:
C1842852
Disease or Syndrome
Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by De Fusco et al., 2014; Crompton et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).
Epilepsy, familial adult myoclonic, 3
MedGen UID:
462210
Concept ID:
C3150860
Disease or Syndrome
Familial adult myoclonic epilepsy-3 (FAME3) is an autosomal dominant neurologic disorder characterized by onset of cortical tremor, mainly affecting the hands and voice, between 10 and 40 years of age, with adult onset being more common. Most affected individuals develop epilepsy with generalized tonic-clonic seizures; some may have partial or absence seizures. The disorder is nonprogressive or slowly progressive, and most patients respond to antiseizure medication (summary by Florian et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).
Epilepsy, familial adult myoclonic, 4
MedGen UID:
767474
Concept ID:
C3554560
Disease or Syndrome

Recent clinical studies

Etiology

Regragui W, Gerdelat-Mas A, Simonetta-Moreau M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):345-9. Epub 2007 Jan 19 doi: 10.1016/j.neucli.2006.12.005. PMID: 17336780

Diagnosis

Magnin E, Vidailhet M, Depienne C, Saint-Martin C, Bouteiller D, LeGuern E, Apartis E, Rumbach L, Labauge P
Rev Neurol (Paris) 2009 Oct;165(10):812-20. Epub 2009 Jul 18 doi: 10.1016/j.neurol.2009.05.014. PMID: 19616813
Regragui W, Gerdelat-Mas A, Simonetta-Moreau M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):345-9. Epub 2007 Jan 19 doi: 10.1016/j.neucli.2006.12.005. PMID: 17336780
Labauge P, Amer LO, Simonetta-Moreau M, Attané F, Tannier C, Clanet M, Castelnovo G, An-Gourfinkel I, Agid Y, Brice A, Ducros A, LeGuern E
Neurology 2002 Mar 26;58(6):941-4. doi: 10.1212/wnl.58.6.941. PMID: 11914412
Terao Y, Ugawa Y, Hanajima R, Yumoto M, Kawahara Y, Yamamoto T, Shirouzu I, Kanazawa I
Electroencephalogr Clin Neurophysiol 1997 Jun;102(6):505-11. doi: 10.1016/s0013-4694(97)96122-1. PMID: 9216483

Therapy

Nakatani-Enomoto S, Terao Y, Hanajima R, Matsuda S, Ohminami S, Inomata-Terada S, Matsumoto H, Yugeta A, Yamamoto T, Goto J, Yumoto M, Tsuji S, Ugawa Y
Clin Neurol Neurosurg 2009 Nov;111(9):762-5. Epub 2009 Aug 3 doi: 10.1016/j.clineuro.2009.06.004. PMID: 19647931
Regragui W, Gerdelat-Mas A, Simonetta-Moreau M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):345-9. Epub 2007 Jan 19 doi: 10.1016/j.neucli.2006.12.005. PMID: 17336780

Prognosis

Magnin E, Vidailhet M, Depienne C, Saint-Martin C, Bouteiller D, LeGuern E, Apartis E, Rumbach L, Labauge P
Rev Neurol (Paris) 2009 Oct;165(10):812-20. Epub 2009 Jul 18 doi: 10.1016/j.neurol.2009.05.014. PMID: 19616813
Labauge P, Amer LO, Simonetta-Moreau M, Attané F, Tannier C, Clanet M, Castelnovo G, An-Gourfinkel I, Agid Y, Brice A, Ducros A, LeGuern E
Neurology 2002 Mar 26;58(6):941-4. doi: 10.1212/wnl.58.6.941. PMID: 11914412

Clinical prediction guides

Labauge P, Amer LO, Simonetta-Moreau M, Attané F, Tannier C, Clanet M, Castelnovo G, An-Gourfinkel I, Agid Y, Brice A, Ducros A, LeGuern E
Neurology 2002 Mar 26;58(6):941-4. doi: 10.1212/wnl.58.6.941. PMID: 11914412
Barrett G
J Clin Neurophysiol 1992 Oct;9(4):495-508. PMID: 1464676

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...