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Gemignani syndrome

MedGen UID:
444093
•Concept ID:
C2931587
•
Disease or Syndrome
Synonym: Spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness
SNOMED CT: Spinocerebellar ataxia, amyotrophy, deafness syndrome (782690007); Gemignani syndrome (782690007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016159
Orphanet: ORPHA2074

Definition

A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGemignani syndrome

Professional guidelines

PubMed

A psychoeducational intervention is a treatment for fibromyalgia syndrome.
Conversano C, Poli A, Ciacchini R, Hitchcott P, Bazzichi L, Gemignani A
Clin Exp Rheumatol 2019 Jan-Feb;37 Suppl 116(1):98-104. Epub 2019 Feb 8 PMID: 30747101
Epidemiology and management of neuropsychiatric disorders in Behçet's syndrome.
Talarico R, Palagini L, d'Ascanio A, Elefante E, Ferrari C, Stagnaro C, Tani C, Gemignani A, Mauri M, Bombardieri S, Mosca M
CNS Drugs 2015 Mar;29(3):189-96. doi: 10.1007/s40263-015-0228-0. PMID: 25643894
Restless legs syndrome: differential diagnosis and management with pramipexole.
Brindani F, Vitetta F, Gemignani F
Clin Interv Aging 2009;4:305-13. Epub 2009 Jun 29 doi: 10.2147/cia.s4143. PMID: 19750232Free PMC Article

Recent clinical studies

Etiology

Germline genetic variability in pancreatic cancer risk and prognosis.
Gentiluomo M, Canzian F, Nicolini A, Gemignani F, Landi S, Campa D
Semin Cancer Biol 2022 Feb;79:105-131. Epub 2020 Aug 18 doi: 10.1016/j.semcancer.2020.08.003. PMID: 32818625
Gender differences on psychological factors in fibromyalgia: a systematic review on the male experience.
Conversano C, Ciacchini R, Orrù G, Bazzichi ML, Gemignani A, Miniati M
Clin Exp Rheumatol 2021 May-Jun;39 Suppl 130(3):174-185. Epub 2020 Dec 2 doi: 10.55563/clinexprheumatol/73g6np. PMID: 33337987
The neurophysiological basis of excessive daytime sleepiness: suggestions of an altered state of consciousness.
Hitchcott PK, Menicucci D, Frumento S, Zaccaro A, Gemignani A
Sleep Breath 2020 Mar;24(1):15-23. Epub 2019 May 28 doi: 10.1007/s11325-019-01865-9. PMID: 31140116
Restless legs syndrome: differential diagnosis and management with pramipexole.
Brindani F, Vitetta F, Gemignani F
Clin Interv Aging 2009;4:305-13. Epub 2009 Jun 29 doi: 10.2147/cia.s4143. PMID: 19750232Free PMC Article
Prophylactic surgery in hereditary breast/ovarian cancer syndrome.
Levine DA, Gemignani ML
Oncology (Williston Park) 2003 Jul;17(7):932-41; discussion 946-8, 950-2. PMID: 12886864

Diagnosis

Small Fiber Neuropathy and SARS-CoV-2 Infection. Another piece in the long COVID puzzle?
Gemignani F
Muscle Nerve 2022 Apr;65(4):369-370. Epub 2022 Jan 31 doi: 10.1002/mus.27495. PMID: 35014706
Germline genetic variability in pancreatic cancer risk and prognosis.
Gentiluomo M, Canzian F, Nicolini A, Gemignani F, Landi S, Campa D
Semin Cancer Biol 2022 Feb;79:105-131. Epub 2020 Aug 18 doi: 10.1016/j.semcancer.2020.08.003. PMID: 32818625
Gender differences on psychological factors in fibromyalgia: a systematic review on the male experience.
Conversano C, Ciacchini R, Orrù G, Bazzichi ML, Gemignani A, Miniati M
Clin Exp Rheumatol 2021 May-Jun;39 Suppl 130(3):174-185. Epub 2020 Dec 2 doi: 10.55563/clinexprheumatol/73g6np. PMID: 33337987
The neurophysiological basis of excessive daytime sleepiness: suggestions of an altered state of consciousness.
Hitchcott PK, Menicucci D, Frumento S, Zaccaro A, Gemignani A
Sleep Breath 2020 Mar;24(1):15-23. Epub 2019 May 28 doi: 10.1007/s11325-019-01865-9. PMID: 31140116
Restless legs syndrome: differential diagnosis and management with pramipexole.
Brindani F, Vitetta F, Gemignani F
Clin Interv Aging 2009;4:305-13. Epub 2009 Jun 29 doi: 10.2147/cia.s4143. PMID: 19750232Free PMC Article

Therapy

Germline genetic variability in pancreatic cancer risk and prognosis.
Gentiluomo M, Canzian F, Nicolini A, Gemignani F, Landi S, Campa D
Semin Cancer Biol 2022 Feb;79:105-131. Epub 2020 Aug 18 doi: 10.1016/j.semcancer.2020.08.003. PMID: 32818625
Restless legs syndrome and painful neuropathy-retrospective study. A role for nociceptive deafferentation?
Gemignani F, Brindani F, Vitetta F, Marbini A
Pain Med 2009 Nov;10(8):1481-6. doi: 10.1111/j.1526-4637.2009.00732.x. PMID: 20021603
Restless legs syndrome: differential diagnosis and management with pramipexole.
Brindani F, Vitetta F, Gemignani F
Clin Interv Aging 2009;4:305-13. Epub 2009 Jun 29 doi: 10.2147/cia.s4143. PMID: 19750232Free PMC Article
Morbidity of rectosigmoid resection and primary anastomosis in patients undergoing primary cytoreductive surgery for advanced epithelial ovarian cancer.
Mourton SM, Temple LK, Abu-Rustum NR, Gemignani ML, Sonoda Y, Bochner BH, Barakat RR, Chi DS
Gynecol Oncol 2005 Dec;99(3):608-14. Epub 2005 Sep 8 doi: 10.1016/j.ygyno.2005.07.112. PMID: 16153697
Prophylactic surgery in hereditary breast/ovarian cancer syndrome.
Levine DA, Gemignani ML
Oncology (Williston Park) 2003 Jul;17(7):932-41; discussion 946-8, 950-2. PMID: 12886864

Prognosis

Germline genetic variability in pancreatic cancer risk and prognosis.
Gentiluomo M, Canzian F, Nicolini A, Gemignani F, Landi S, Campa D
Semin Cancer Biol 2022 Feb;79:105-131. Epub 2020 Aug 18 doi: 10.1016/j.semcancer.2020.08.003. PMID: 32818625
Neurological Complications of COVID-19 and Possible Neuroinvasion Pathways: A Systematic Review.
Orrù G, Conversano C, Malloggi E, Francesconi F, Ciacchini R, Gemignani A
Int J Environ Res Public Health 2020 Sep 14;17(18) doi: 10.3390/ijerph17186688. PMID: 32937949Free PMC Article
Behçet's syndrome and psychiatric involvement: is it a primary or secondary feature of the disease?
Talarico R, Palagini L, Elefante E, Ferro F, Tani C, Gemignani A, Bombardieri S, Mosca M
Clin Exp Rheumatol 2018 Nov-Dec;36(6 Suppl 115):125-128. Epub 2018 Dec 13 PMID: 30582513
Epidemiology and management of neuropsychiatric disorders in Behçet's syndrome.
Talarico R, Palagini L, d'Ascanio A, Elefante E, Ferrari C, Stagnaro C, Tani C, Gemignani A, Mauri M, Bombardieri S, Mosca M
CNS Drugs 2015 Mar;29(3):189-96. doi: 10.1007/s40263-015-0228-0. PMID: 25643894
Hearing and vestibular disturbances in Behçet's syndrome.
Gemignani G, Berrettini S, Bruschini P, Sellari-Franceschini S, Fusari P, Piragine F, Pasero G, Olivieri I
Ann Otol Rhinol Laryngol 1991 Jun;100(6):459-63. doi: 10.1177/000348949110000606. PMID: 2058986

Clinical prediction guides

Germline genetic variability in pancreatic cancer risk and prognosis.
Gentiluomo M, Canzian F, Nicolini A, Gemignani F, Landi S, Campa D
Semin Cancer Biol 2022 Feb;79:105-131. Epub 2020 Aug 18 doi: 10.1016/j.semcancer.2020.08.003. PMID: 32818625
Gender differences on psychological factors in fibromyalgia: a systematic review on the male experience.
Conversano C, Ciacchini R, Orrù G, Bazzichi ML, Gemignani A, Miniati M
Clin Exp Rheumatol 2021 May-Jun;39 Suppl 130(3):174-185. Epub 2020 Dec 2 doi: 10.55563/clinexprheumatol/73g6np. PMID: 33337987
Epidemiology and management of neuropsychiatric disorders in Behçet's syndrome.
Talarico R, Palagini L, d'Ascanio A, Elefante E, Ferrari C, Stagnaro C, Tani C, Gemignani A, Mauri M, Bombardieri S, Mosca M
CNS Drugs 2015 Mar;29(3):189-96. doi: 10.1007/s40263-015-0228-0. PMID: 25643894
Evaluation of latent links between irritable bowel syndrome and sleep quality.
Bellini M, Gemignani A, Gambaccini D, Toti S, Menicucci D, Stasi C, Costa F, Mumolo MG, Ricchiuti A, Bedini R, de Bortoli N, Marchi S
World J Gastroenterol 2011 Dec 14;17(46):5089-96. doi: 10.3748/wjg.v17.i46.5089. PMID: 22171143Free PMC Article
Clinical spectrum of cryoglobulinaemic neuropathy.
Gemignani F, Brindani F, Alfieri S, Giuberti T, Allegri I, Ferrari C, Marbini A
J Neurol Neurosurg Psychiatry 2005 Oct;76(10):1410-4. doi: 10.1136/jnnp.2004.057620. PMID: 16170087Free PMC Article

Recent systematic reviews

Gender differences on psychological factors in fibromyalgia: a systematic review on the male experience.
Conversano C, Ciacchini R, Orrù G, Bazzichi ML, Gemignani A, Miniati M
Clin Exp Rheumatol 2021 May-Jun;39 Suppl 130(3):174-185. Epub 2020 Dec 2 doi: 10.55563/clinexprheumatol/73g6np. PMID: 33337987
Neurological Complications of COVID-19 and Possible Neuroinvasion Pathways: A Systematic Review.
Orrù G, Conversano C, Malloggi E, Francesconi F, Ciacchini R, Gemignani A
Int J Environ Res Public Health 2020 Sep 14;17(18) doi: 10.3390/ijerph17186688. PMID: 32937949Free PMC Article

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