Objective: NA

Background: Parkinson’s disease comprises of rest tremor, bradykinesia as well as difficulty with gait and abnormal posture. Certain neurological disorders may mimic Parkinsonism while having other etiologies. We present a case of such abnormal movements that had previously been diagnosed as Parkinson’s disease but was later revealed to be adult onset ataxia telangiectasia.

Method: An 84 year old gentleman presented for evaluation of abnormal movements he has had for 40 years. He reported tremor in his hands, legs as well as head; worsening of his gait over the last few years; intermittent curling of his toes bilaterally; orthostatic symptoms as well as urinary urgency. He had worsened cognitive functioning as well. Previously he had been diagnosed with Parkinson’s syndrome. Levodopa trial did not provide significant improvement of his symptoms. He reported three of his siblings (2 sisters and 1 brother) had similar abnormal movements. On physical exam, he had multidirectional head tremor, bilateral hand rest, action and postural tremor. He had symmetric bradykinesia bilaterally on finger tapping, cogwheel rigidity in all extremities and had involuntary chewing and lip smacking orobuccal movements. He had stooped posture with short strides and walked with a walker. Peripheral blood smear revealed presence of acanthocytes. Dopamine transporter reuptake-SPECT (DAT) scan was normal. MRI brain did not reveal intracranial issues. Genetic workup revealed homozygous ATM gene mutation (pV2716A variant) which was consistent with adult Ataxia Telangiectasia. Patient was tried on Amantadine but did not report significant improvement with motor symptoms.

Results: NA

Conclusion: Our patient had long standing history of atypical Parkinsonism in addition to choreiform orobuccal movements, in the setting of normal DAT scan and acanthocytes on the peripheral smear. This is an unusual presentation of adult onset ataxia-telangiectasia and warrants appropriate workup and subsequent genetic testing and counseling for the patient and their family.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/atypical-presentation-of-ataxia-telangiectasia-masquerading-as-parkinsons-disease/