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Primary progressive freezing gait

MedGen UID:
894846
Concept ID:
C4275078
Disease or Syndrome
Synonyms: PPFG; primary progressive freezing gait; Primary progressive freezing gait syndrome
SNOMED CT: Primary progressive freezing gait syndrome (715627004); Primary progressive freezing gait (715627004)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0019160
Orphanet: ORPHA75567

Definition

Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary progressive freezing gait

Recent clinical studies

Etiology

Fasano A, Baldari S, Di Giuda D, Paratore R, Piano C, Bentivoglio AR, Girlanda P, Morgante F
Parkinsonism Relat Disord 2012 Jun;18(5):578-84. Epub 2012 Mar 28 doi: 10.1016/j.parkreldis.2012.03.002. PMID: 22459564
Williams DR, Holton JL, Strand K, Revesz T, Lees AJ
Mov Disord 2007 Nov 15;22(15):2235-41. doi: 10.1002/mds.21698. PMID: 17712855
Factor SA, Jennings DL, Molho ES, Marek KL
Arch Neurol 2002 Nov;59(11):1778-83. doi: 10.1001/archneur.59.11.1778. PMID: 12433266
Nicaretta DH, Pereira JS, Pimentel ML
Arq Neuropsiquiatr 1997 Sep;55(3A):496-8. doi: 10.1590/s0004-282x1997000300024. PMID: 9629371

Diagnosis

Seo JP, Chang MC
Medicine (Baltimore) 2017 May;96(19):e6840. doi: 10.1097/MD.0000000000006840. PMID: 28489770Free PMC Article
Fasano A, Baldari S, Di Giuda D, Paratore R, Piano C, Bentivoglio AR, Girlanda P, Morgante F
Parkinsonism Relat Disord 2012 Jun;18(5):578-84. Epub 2012 Mar 28 doi: 10.1016/j.parkreldis.2012.03.002. PMID: 22459564
Factor SA, Higgins DS, Qian J
Neurology 2006 Feb 14;66(3):411-4. doi: 10.1212/01.wnl.0000196469.52995.ab. PMID: 16476942
Factor SA, Jennings DL, Molho ES, Marek KL
Arch Neurol 2002 Nov;59(11):1778-83. doi: 10.1001/archneur.59.11.1778. PMID: 12433266
Achiron A, Ziv I, Goren M, Goldberg H, Zoldan Y, Sroka H, Melamed E
Mov Disord 1993 Jul;8(3):293-7. doi: 10.1002/mds.870080307. PMID: 8341293

Therapy

Morgante F, Fasano A
Neurology 2010 Dec 7;75(23):2130-2. doi: 10.1212/WNL.0b013e318200d7a3. PMID: 21135389
Salsone M, Bagnato A, Novellino F, Cascini GL, Paglionico S, Cipullo S, Morelli M, Pugliese P, Nicoletti G, Messina D, Condino F, Arabia G, Morgante L, Quattrone A
Parkinsonism Relat Disord 2009 Jun;15(5):365-9. Epub 2008 Nov 5 doi: 10.1016/j.parkreldis.2008.08.008. PMID: 18980855
Coria F, Cozar-Santiago Mdel P
Mov Disord 2008 Feb 15;23(3):449-51. doi: 10.1002/mds.21868. PMID: 18067186
Factor SA, Jennings DL, Molho ES, Marek KL
Arch Neurol 2002 Nov;59(11):1778-83. doi: 10.1001/archneur.59.11.1778. PMID: 12433266
Achiron A, Ziv I, Goren M, Goldberg H, Zoldan Y, Sroka H, Melamed E
Mov Disord 1993 Jul;8(3):293-7. doi: 10.1002/mds.870080307. PMID: 8341293

Prognosis

Fasano A, Baldari S, Di Giuda D, Paratore R, Piano C, Bentivoglio AR, Girlanda P, Morgante F
Parkinsonism Relat Disord 2012 Jun;18(5):578-84. Epub 2012 Mar 28 doi: 10.1016/j.parkreldis.2012.03.002. PMID: 22459564
Williams DR, Holton JL, Strand K, Revesz T, Lees AJ
Mov Disord 2007 Nov 15;22(15):2235-41. doi: 10.1002/mds.21698. PMID: 17712855
Nicaretta DH, Pereira JS, Pimentel ML
Arq Neuropsiquiatr 1997 Sep;55(3A):496-8. doi: 10.1590/s0004-282x1997000300024. PMID: 9629371

Clinical prediction guides

Fasano A, Baldari S, Di Giuda D, Paratore R, Piano C, Bentivoglio AR, Girlanda P, Morgante F
Parkinsonism Relat Disord 2012 Jun;18(5):578-84. Epub 2012 Mar 28 doi: 10.1016/j.parkreldis.2012.03.002. PMID: 22459564
Salsone M, Bagnato A, Novellino F, Cascini GL, Paglionico S, Cipullo S, Morelli M, Pugliese P, Nicoletti G, Messina D, Condino F, Arabia G, Morgante L, Quattrone A
Parkinsonism Relat Disord 2009 Jun;15(5):365-9. Epub 2008 Nov 5 doi: 10.1016/j.parkreldis.2008.08.008. PMID: 18980855
Williams DR, Holton JL, Strand K, Revesz T, Lees AJ
Mov Disord 2007 Nov 15;22(15):2235-41. doi: 10.1002/mds.21698. PMID: 17712855
Achiron A, Ziv I, Goren M, Goldberg H, Zoldan Y, Sroka H, Melamed E
Mov Disord 1993 Jul;8(3):293-7. doi: 10.1002/mds.870080307. PMID: 8341293

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