Ataxia without telangiectasia revisited: Update on genetic findings in two brothers with an ataxia‐telangiectasia‐like disorder

Klein, Christine; Stewart, Grant S.; Quinn, Niall; Taylor, Alexander M.

doi:10.1002/mds.1136

Cited by 4 publications

(2 citation statements)

References 10 publications

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“…This diagnosis was revised to AT when other clinical features became evident including ataxia and oculomotor apraxia, however, they did not have detectable mutations in the ATM gene; as such they were described as having Ataxia‐telangiectasia‐like disorder 17. Consistent with this diagnosis, further genetic studies found them to be compound heterozygotes for the hMRE11 mutation 18…”

Section: Differential Diagnosismentioning

confidence: 99%

Benign hereditary chorea revisited: A journey to understanding

Kleiner‐Fisman

Lang

2007

Movement Disorders

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Benign hereditary chorea (BHC) has been characterized as an autosomal dominant disorder manifesting nonprogressive chorea without dementia. However, there has been controversy regarding its existence. Diagnosis has been based solely on clinical criteria with many patients and families demonstrating "atypical" features and until recently, no diagnostic test was available for confirmation. Since 2002, mutations in the thyroid transcription factor (TITF-1) gene have been identified as resulting in some cases of BHC. Additionally, the clinical spectrum has expanded to include abnormalities in thyroid and lung with the putative mechanism of disease resulting from gene haploinsufficiency and reduced protein product. This review summarizes both a historical perspective and our current understanding of BHC.

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Section: Differential Diagnosismentioning

confidence: 99%

Benign hereditary chorea revisited: A journey to understanding

Kleiner‐Fisman

Lang

2007

Movement Disorders

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“…Neurodegeneration in A-T may result either from an inability to trigger apoptosis in the absence of ATM or from the persistence of unrepaired DNA doublestrand breaks that may lead to neuronal dysfunction and degeneration [9]. Mutations in the MRE11 gene also lead to neurodegeneration and a rare A-T-like phenotype (ATLD) characterized by early-onset cerebellar ataxia, oculomotor apraxia, and choreoathetosis but without elevated alphafoetoprotein levels [10][11][12][13][14][15][16]. Finally, SCAN1, another autosomal recessive cerebellar ataxia with neuropathy but Autosomal recessive cerebellar ataxias (ARCAs) are a phenotypically and genetically heterogeneous group of diseases.…”

Section: Introductionmentioning

confidence: 98%

New autosomal recessive cerebellar ataxias with oculomotor apraxia

Ber¹,

Brice²,

Dürr

2005

Curr Neurol Neurosci Rep

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Autosomal recessive cerebellar ataxias (ARCAs) are a phenotypically and genetically heterogeneous group of diseases. Recently, a subgroup of ARCA associated with oculomotor apraxia (AOA) has been delineated. It includes at least four distinct genetic entities: ataxia-telangiectasia, ataxia-telangiectasia-like disorder, and ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2). The phenotypes share several similarities, and the responsible genes, ATM, MRE11, APTX, and SETX, respectively, are all implicated in DNA break repair. As in many other DNA repair deficiencies, neurodegeneration is a hallmark of these diseases. Recently, the genes for two new autosomal recessive cerebellar ataxias with oculomotor apraxia, AOA1 and AOA2, were identified. Here, we report the phenotypic characteristics, genetic characteristics, and the recent advances concerning AOA1 and AOA2.

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