Ataxia telangiectasia like disorder: Another dopa-responsive disorder look-alike?

Ser, Merve Hazal; Tekgül, Şeyma; Gündüz, Ayşegül; Kızıltan, ME; Kızıltan, Güneş; Başak, AN

doi:10.1016/j.parkreldis.2020.03.016

Cited by 2 publications

(6 citation statements)

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“…20 Rarely, short stature, microcephaly, cognitive impairment, facial dyskinesia and neuropathy may be found in ATLD1. 20 The most common oculomotor abnormalities in ATLD1 are slow and dysmetric saccades, oculomotor apraxia, delayed convergence and gaze-evoked nystagmus. [19][20][21][22] ATLD2 was firstly described in 2014, although function in DNA repair and replication of the PCNA gene is known since 1986.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…20 The most common oculomotor abnormalities in ATLD1 are slow and dysmetric saccades, oculomotor apraxia, delayed convergence and gaze-evoked nystagmus. [19][20][21][22] ATLD2 was firstly described in 2014, although function in DNA repair and replication of the PCNA gene is known since 1986. 4 Clinical features of ATLD2 include cerebellar ataxia, short stature, hearing loss, premature aging, telangiectasia and photosensitivity.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…10,36,37 Some studies have showed improvement of dystonia with the use of levodopa in both, ATLD and AT. 20,38 Oral drugs therapy with anticholinergic drugs (eg biperiden and trihexyphenidyl) 10,37 and GABA (c-aminobutyric acid) mimetics (eg baclofen, clonazepam) may alleviate symptoms in patients with generalized dystonia, blepharospasm, pain and oromandibular dystonia. 39 Since ATLD and AT patients are radio-sensitive, X-ray exposure and radiotherapy must be avoid.…”

Section: Therapeutic Approachesmentioning

confidence: 99%

Section: Literature Reviewmentioning

confidence: 99%

“…Clinical features of ATLD1 are characterized by cerebellar ataxia, eye movement abnormalities, radiosensitivity, choreoathetosis and dystonia 20 . Rarely, short stature, microcephaly, cognitive impairment, facial dyskinesia and neuropathy may be found in ATLD1 20 . The most common oculomotor abnormalities in ATLD1 are slow and dysmetric saccades, oculomotor apraxia, delayed convergence and gaze‐evoked nystagmus 19–22 …”

Section: Literature Reviewmentioning

confidence: 99%

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Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia‐Like Disorders

Raslan

Matos

Ciarlariello

et al. 2020

Movement Disord Clin Pract

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Background Background: Ataxia telangiectasia is one of the most common causes of autosomal recessive cerebellar ataxias. However, absence of telangiectasia, normal levels of alpha-fetoprotein and negative genetic test may direct to alternative diagnosis with similar phenotypes such as ataxia telangiectasia-like disorders (ATLD). Cases Cases: We report two instructive cases of ATLD: the first case with ataxia telangiectasia-like disorder type 1 related to MRE11A gene, and the second case with ataxia telangiectasia-like disorder type 2 related to PCNA gene. Literature Review Literature Review: ATLD is an unusual group of autosomal recessive diseases that share some clinical features and pathophysiological mechanisms with ataxia telangiectasia (AT). ATLD may be associated with mutations in the MRE11A (ATLD type 1) and PCNA (ATLD type 2) genes. ATLD belongs to the group of chromosomal instability syndromes. The reason for the term ATLD is related to the similar pathophysiological mechanisms observed in AT, which is characterized by chromosomal instability and radiosensitivity. Conclusions Conclusions: In this review, the main clinical features, biomarkers, brain imaging and genetics of ATLD are discussed. Mutations in the MRE11A and PCNA genes should be included in the differential diagnosis for early onset cerebellar ataxia with absence of telangiectasia and normal levels of alpha-fetoprotein.

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