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Granulovacuolar degeneration

MedGen UID:
87168
Concept ID:
C0333454
Pathologic Function
SNOMED CT: Granulovacuolar degeneration (90506004)
 
HPO: HP:0002528

Definition

Electron-dense granules within double membrane-bound cytoplasmic vacuoles. [from HPO]

Term Hierarchy

Conditions with this feature

Supranuclear palsy, progressive, 2
MedGen UID:
324446
Concept ID:
C1836148
Disease or Syndrome
Supranuclear palsy, progressive, 1
MedGen UID:
1640811
Concept ID:
C4551863
Disease or Syndrome
The spectrum of clinical manifestations of MAPT-related frontotemporal dementia (MAPT-FTD) has expanded from its original description of frontotemporal dementia and parkinsonian manifestations to include changes in behavior, motor function, memory, and/or language. A recent retrospective study suggested that the majority of affected individuals have either behavioral changes consistent with a diagnosis of behavioral variant FTD (bvFTD) or, less commonly, a parkinsonian syndrome (i.e., progressive supranuclear palsy, corticobasal syndrome, or Parkinson disease). Fewer than 5% of people with MAPT-FTD have primary progressive aphasia or Alzheimer disease. Clinical presentation may differ between and within families with the same MAPT variant. MAPT-FTD is a progressive disorder that commonly ends with a relatively global dementia in which some affected individuals become mute. Progression of motor impairment in affected individuals results in some becoming chairbound and others bedbound. Mean disease duration is 9.3 (SD: 6.4) years but is individually variable and can be more than 30 years in some instances.

Professional guidelines

PubMed

Brat DJ, Gearing M, Goldthwaite PT, Wainer BH, Burger PC
Neuropathol Appl Neurobiol 2001 Jun;27(3):197-205. doi: 10.1046/j.1365-2990.2001.00311.x. PMID: 11489139
Nasreddine ZS, Loginov M, Clark LN, Lamarche J, Miller BL, Lamontagne A, Zhukareva V, Lee VM, Wilhelmsen KC, Geschwind DH
Ann Neurol 1999 Jun;45(6):704-15. doi: 10.1002/1531-8249(199906)45:6<704::aid-ana4>3.0.co;2-x. PMID: 10360762
Prayson RA, Estes ML
Cleve Clin J Med 1994 Mar-Apr;61(2):115-22; quiz 162. doi: 10.3949/ccjm.61.2.115. PMID: 8194175

Recent clinical studies

Therapy

Jorge-Oliva M, van Weering JRT, Scheper W
Int J Mol Sci 2023 Jun 29;24(13) doi: 10.3390/ijms241310865. PMID: 37446051Free PMC Article
Barranco N, Plá V, Alcolea D, Sánchez-Domínguez I, Fischer-Colbrie R, Ferrer I, Lleó A, Aguado F
Transl Neurodegener 2021 Sep 26;10(1):37. doi: 10.1186/s40035-021-00263-0. PMID: 34565482Free PMC Article
Kurdi M, Alghamdi B
Folia Neuropathol 2020;58(4):277-286. doi: 10.5114/fn.2020.102429. PMID: 33480232

Prognosis

Koper MJ, Tomé SO, Gawor K, Belet A, Van Schoor E, Schaeverbeke J, Vandenberghe R, Vandenbulcke M, Ghebremedhin E, Otto M, von Arnim CAF, Balusu S, Blaschko MB, De Strooper B, Thal DR
Acta Neuropathol Commun 2022 Sep 3;10(1):128. doi: 10.1186/s40478-022-01432-6. PMID: 36057624Free PMC Article
Van Schoor E, Koper MJ, Ospitalieri S, Dedeene L, Tomé SO, Vandenberghe R, Brenner D, Otto M, Weishaupt J, Ludolph AC, Van Damme P, Van Den Bosch L, Thal DR
Neuropathol Appl Neurobiol 2021 Feb;47(2):328-345. Epub 2020 Oct 20 doi: 10.1111/nan.12668. PMID: 32949047
Calderon-Garcidueñas AL, Duyckaerts C
Handb Clin Neurol 2017;145:325-337. doi: 10.1016/B978-0-12-802395-2.00023-7. PMID: 28987180
Funk KE, Mrak RE, Kuret J
Neuropathol Appl Neurobiol 2011 Apr;37(3):295-306. doi: 10.1111/j.1365-2990.2010.01135.x. PMID: 20946470Free PMC Article
Walton JR
Neurotoxicology 2006 May;27(3):385-94. Epub 2006 Feb 3 doi: 10.1016/j.neuro.2005.11.007. PMID: 16458972

Clinical prediction guides

Jorge-Oliva M, Smits JFM, Wiersma VI, Hoozemans JJM, Scheper W
Alzheimers Res Ther 2022 Dec 14;14(1):187. doi: 10.1186/s13195-022-01128-y. PMID: 36517915Free PMC Article
Hondius DC, Koopmans F, Leistner C, Pita-Illobre D, Peferoen-Baert RM, Marbus F, Paliukhovich I, Li KW, Rozemuller AJM, Hoozemans JJM, Smit AB
Acta Neuropathol 2021 Mar;141(3):341-358. Epub 2021 Jan 25 doi: 10.1007/s00401-020-02261-4. PMID: 33492460Free PMC Article
Wiersma VI, Hoozemans JJM, Scheper W
Acta Neuropathol Commun 2020 Sep 3;8(1):153. doi: 10.1186/s40478-020-00996-5. PMID: 32883341Free PMC Article
Calderon-Garcidueñas AL, Duyckaerts C
Handb Clin Neurol 2017;145:325-337. doi: 10.1016/B978-0-12-802395-2.00023-7. PMID: 28987180
Köhler C
Acta Neuropathol 2016 Sep;132(3):339-59. Epub 2016 Apr 9 doi: 10.1007/s00401-016-1562-0. PMID: 27062260

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