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X-linked cerebellar ataxia

MedGen UID:
832545
•Concept ID:
CN226974
•
Disease or Syndrome
Synonyms: cerebellar ataxia, X-linked; hereditary ataxia, X-linked; X-linked hereditary ataxia
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked dominant inheritance
MedGen UID:
376232
•Concept ID:
C1847879
•
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
See: This record
X-linked recessive inheritance (Orphanet)
X-linked dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016612
Orphanet: ORPHA247765

Definition

X-linked form of cerebellar ataxia. [from MONDO]

Professional guidelines

PubMed

Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article
Current concepts in the treatment of hereditary ataxias.
Braga Neto P, Pedroso JL, Kuo SH, Marcondes Junior CF, Teive HA, Barsottini OG
Arq Neuropsiquiatr 2016 Mar;74(3):244-52. doi: 10.1590/0004-282X20160038. PMID: 27050855Free PMC Article

Recent clinical studies

Etiology

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.
Vicario M, Calì T, Cieri D, Vallese F, Bortolotto R, Lopreiato R, Zonta F, Nardella M, Micalizzi A, Lefeber DJ, Valente EM, Bertini E, Zanotti G, Zanni G, Brini M, Carafoli E
Biochim Biophys Acta Mol Basis Dis 2017 Dec;1863(12):3303-3312. Epub 2017 Aug 12 doi: 10.1016/j.bbadis.2017.08.006. PMID: 28807751

Diagnosis

Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness.
Bogdanova-Mihaylova P, Alexander MD, Murphy RP, Chen H, Healy DG, Walsh RA, Murphy SM
J Peripher Nerv Syst 2019 Dec;24(4):348-353. Epub 2019 Oct 10 doi: 10.1111/jns.12348. PMID: 31523922

Prognosis

X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.
Maguire A, Hellier K, Hammans S, May A
Br J Haematol 2001 Dec;115(4):910-7. doi: 10.1046/j.1365-2141.2001.03015.x. PMID: 11843825

Clinical prediction guides

Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness.
Bogdanova-Mihaylova P, Alexander MD, Murphy RP, Chen H, Healy DG, Walsh RA, Murphy SM
J Peripher Nerv Syst 2019 Dec;24(4):348-353. Epub 2019 Oct 10 doi: 10.1111/jns.12348. PMID: 31523922
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.
Maguire A, Hellier K, Hammans S, May A
Br J Haematol 2001 Dec;115(4):910-7. doi: 10.1046/j.1365-2141.2001.03015.x. PMID: 11843825

Supplemental Content

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