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Tremor, hereditary essential, 4(ETM4)

MedGen UID:
761337
•Concept ID:
C3539195
•
Disease or Syndrome
Synonym: ETM4
 
Gene (location): FUS (16p11.2)
 
Monarch Initiative: MONDO:0013888
OMIM®: 614782

Definition

Any essential tremor in which the cause of the disease is a mutation in the FUS gene. [from MONDO]

Clinical features

From HPO
Action tremor
MedGen UID:
65875
•Concept ID:
C0234376
•
Sign or Symptom
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
See: Feature record | Search on this feature
Postural tremor
MedGen UID:
66696
•Concept ID:
C0234378
•
Sign or Symptom
A type of tremors that is triggered by holding a limb in a fixed position.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A
EBioMedicine 2024 Jan;99:104931. Epub 2023 Dec 27 doi: 10.1016/j.ebiom.2023.104931. PMID: 38150853Free PMC Article
Asymmetric postural tremor preceding DOPA-responsive Parkinsonism - the transition disease.
Wolters A, Walter U, Wittstock M, Benecke R
J Parkinsons Dis 2014;4(1):45-55. doi: 10.3233/JPD-130287. PMID: 24398659
Specificity of transcranial sonography in parkinson spectrum disorders in comparison to degenerative cognitive syndromes.
Laučkaitė K, Rastenytė D, Šurkienė D, Vaitkus A, Sakalauskas A, Lukoševičius A, Gleiznienė R
BMC Neurol 2012 Mar 8;12:12. doi: 10.1186/1471-2377-12-12. PMID: 22400906Free PMC Article
A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.
Puschmann A, Pfeiffer RF, Stoessl AJ, Kuriakose R, Lash JL, Searcy JA, Strongosky AJ, Vilariño-Güell C, Farrer MJ, Ross OA, Dickson DW, Wszolek ZK
Neurology 2011 May 10;76(19):1623-30. doi: 10.1212/WNL.0b013e318219fb42. PMID: 21555728Free PMC Article
Essential tremor in Parkinson's disease kindreds from a population of similar genetic background.
Spanaki C, Plaitakis A
Mov Disord 2009 Aug 15;24(11):1662-8. doi: 10.1002/mds.22655. PMID: 19514058

Diagnosis

I(123)-FP-CIT (DaTSCAN) SPECT beyond the Most Common Causes of Parkinsonism: A Systematic Review.
Quintas S, Sanles-Falagan R, Berbís MÁ
Mov Disord Clin Pract 2024 Jun;11(6):613-625. Epub 2024 May 1 doi: 10.1002/mdc3.14055. PMID: 38693679Free PMC Article
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A
EBioMedicine 2024 Jan;99:104931. Epub 2023 Dec 27 doi: 10.1016/j.ebiom.2023.104931. PMID: 38150853Free PMC Article
Specificity of transcranial sonography in parkinson spectrum disorders in comparison to degenerative cognitive syndromes.
Laučkaitė K, Rastenytė D, Šurkienė D, Vaitkus A, Sakalauskas A, Lukoševičius A, Gleiznienė R
BMC Neurol 2012 Mar 8;12:12. doi: 10.1186/1471-2377-12-12. PMID: 22400906Free PMC Article
Essential tremor and its variants.
Britton TC
Curr Opin Neurol 1995 Aug;8(4):314-9. doi: 10.1097/00019052-199508000-00012. PMID: 7582049
Essential tremor: an overview.
Metzer WS
J Ark Med Soc 1994 May;90(12):587-90. PMID: 7913460

Therapy

Asymmetric postural tremor preceding DOPA-responsive Parkinsonism - the transition disease.
Wolters A, Walter U, Wittstock M, Benecke R
J Parkinsons Dis 2014;4(1):45-55. doi: 10.3233/JPD-130287. PMID: 24398659
Risk factors and demographics in patients with spasmodic dysphonia.
Schweinfurth JM, Billante M, Courey MS
Laryngoscope 2002 Feb;112(2):220-3. doi: 10.1097/00005537-200202000-00004. PMID: 11889373
Essential tremor: an overview.
Metzer WS
J Ark Med Soc 1994 May;90(12):587-90. PMID: 7913460
Tremor.
Gillespie MM
J Neurosci Nurs 1991 Jun;23(3):170-4. doi: 10.1097/01376517-199106000-00007. PMID: 1678770

Prognosis

I(123)-FP-CIT (DaTSCAN) SPECT beyond the Most Common Causes of Parkinsonism: A Systematic Review.
Quintas S, Sanles-Falagan R, Berbís MÁ
Mov Disord Clin Pract 2024 Jun;11(6):613-625. Epub 2024 May 1 doi: 10.1002/mdc3.14055. PMID: 38693679Free PMC Article
Specificity of transcranial sonography in parkinson spectrum disorders in comparison to degenerative cognitive syndromes.
Laučkaitė K, Rastenytė D, Šurkienė D, Vaitkus A, Sakalauskas A, Lukoševičius A, Gleiznienė R
BMC Neurol 2012 Mar 8;12:12. doi: 10.1186/1471-2377-12-12. PMID: 22400906Free PMC Article
Rare causes of hereditary iron overload.
Ponka P
Semin Hematol 2002 Oct;39(4):249-62. doi: 10.1053/shem.2002.35638. PMID: 12382200
Risk factors and demographics in patients with spasmodic dysphonia.
Schweinfurth JM, Billante M, Courey MS
Laryngoscope 2002 Feb;112(2):220-3. doi: 10.1097/00005537-200202000-00004. PMID: 11889373
Tremor.
Gillespie MM
J Neurosci Nurs 1991 Jun;23(3):170-4. doi: 10.1097/01376517-199106000-00007. PMID: 1678770

Clinical prediction guides

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A
EBioMedicine 2024 Jan;99:104931. Epub 2023 Dec 27 doi: 10.1016/j.ebiom.2023.104931. PMID: 38150853Free PMC Article
Asymmetric postural tremor preceding DOPA-responsive Parkinsonism - the transition disease.
Wolters A, Walter U, Wittstock M, Benecke R
J Parkinsons Dis 2014;4(1):45-55. doi: 10.3233/JPD-130287. PMID: 24398659
Specificity of transcranial sonography in parkinson spectrum disorders in comparison to degenerative cognitive syndromes.
Laučkaitė K, Rastenytė D, Šurkienė D, Vaitkus A, Sakalauskas A, Lukoševičius A, Gleiznienė R
BMC Neurol 2012 Mar 8;12:12. doi: 10.1186/1471-2377-12-12. PMID: 22400906Free PMC Article
Rare causes of hereditary iron overload.
Ponka P
Semin Hematol 2002 Oct;39(4):249-62. doi: 10.1053/shem.2002.35638. PMID: 12382200
Benign hereditary non-progressive chorea of early onset. Clinical genetics of the syndrome and report of a new family.
Burns J, Neuhäuser G, Tomasi L
Neuropadiatrie 1976 Nov;7(4):431-8. doi: 10.1055/s-0028-1091643. PMID: 1036766

Recent systematic reviews

I(123)-FP-CIT (DaTSCAN) SPECT beyond the Most Common Causes of Parkinsonism: A Systematic Review.
Quintas S, Sanles-Falagan R, Berbís MÁ
Mov Disord Clin Pract 2024 Jun;11(6):613-625. Epub 2024 May 1 doi: 10.1002/mdc3.14055. PMID: 38693679Free PMC Article

Supplemental Content

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    Related information

    • ClinVar
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    • Gene
      Related information in NCBI Gene
    • GTR
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    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
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