Huntington’s disease presenting as adult-onset tourettism: a case report

Mitesh Chandarana; Udit Saraf; Kalikavil Puthanveedu Divya; Syam Krishnan

doi:10.4103/AOMD.AOMD_1_21

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CASE REPORTS

Year : 2021 | Volume : 4 | Issue : 3 | Page : 153-156

Huntington’s disease presenting as adult-onset tourettism: a case report

Mitesh Chandarana, Udit Saraf, Kalikavil Puthanveedu Divya, Syam Krishnan
Comprehensive Care Centre for Movement Disorders, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India

Date of Submission	05-Jan-2021
Date of Decision	21-May-2021
Date of Acceptance	23-May-2021
Date of Web Publication	22-Dec-2021

Correspondence Address:
Dr. Syam Krishnan
Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala.
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/AOMD.AOMD_1_21

Abstract

Huntington’s disease (HD) is an autosomal dominant progressive neurodegenerative disease, caused by trinucleotide repeat expansion (CAG) in the Huntingtin gene (HTT) on chromosome 4. It is typically characterized by the combination of chorea with or without other extrapyramidal symptoms, oculomotor abnormalities, cognitive decline, and neuropsychiatric manifestations. However, HD consists of considerable phenotypic variability. Though chorea is the most common extrapyramidal manifestation, it is also associated with other movement disorders such as dystonia, myoclonus, tics, parkinsonism, and ataxia.

Keywords: Adult-onset tics, adult-onset tourettism, untington’s disease, secondary tourettism

How to cite this article:
Chandarana M, Saraf U, Divya KP, Krishnan S. Huntington’s disease presenting as adult-onset tourettism: a case report. Ann Mov Disord 2021;4:153-6

How to cite this URL:
Chandarana M, Saraf U, Divya KP, Krishnan S. Huntington’s disease presenting as adult-onset tourettism: a case report. Ann Mov Disord [serial online] 2021 [cited 2023 May 29];4:153-6. Available from: https://www.aomd.in/text.asp?2021/4/3/153/333359

Introduction

Huntington’s disease (HD) is an autosomal dominant, neurodegenerative movement disorder, typically characterized by the combination of chorea, oculomotor disturbances, cognitive decline, and psychiatric symptoms, due to a trinucleotide (CAG) repeat expansion in the huntingtin (HTT) gene.^[1] Although chorea is the most common extrapyramidal manifestation of HD, other movement disorders such as dystonia, myoclonus, tics, tremor, Parkinsonism ^{More Details}, and ataxia also manifest as the disease progresses.^[2] Tics occur rarely in HD, and secondary tourettism has been described as the only or a prominent manifestation of HD as well as some of the other heredodegenerative diseases. Here, we describe a 38-year-old gentleman who presented with adult-onset tourettism, who was confirmed to have HD with the presence of expanded CAG repeats in the HTT gene.

Case Report

A 38-year-old male, born out of non-consanguineous parentage, presented with 3-year history of involuntary vocalizations and involuntary movements of head, face, and right upper limb. Initially, his mother noticed that he makes involuntary, repetitive sounds (“uhhhh”) particularly while watching TV, which was partially suppressible. He also developed intermittent, repetitive blinking of eyelids, brief and patterned movements of neck (rotation of neck), and movements involving perioral and lip regions. These movements were associated with brief, intermittent, patterned movements of right upper limb (shoulder shrugging and repetitive touching of seat belt while driving), preceded by premonitory urge, and were partially suppressible. For the past 2 years, he developed progressive cognitive decline as well as anxiety and depression with occasional suicidal ideations. There were no choreiform movements, abnormal posturing of limbs or neck, tremulousness of limbs, slowness of activities, or gait ataxia. There was no history of similar involuntary movements in the childhood. There was no past history of alcohol intake or any substance abuse, neuroleptic exposure, or head trauma. His mother died in her 30s due to unknown reasons. Father was not available for examination due to divorce. There was no history of similar symptoms, cognitive disturbance, psychiatric abnormality, or suicide in any other family members.

On examination, he had severe cognitive dysfunction (Montreal Cognitive Assessment (MoCA) scale 11/30) and moderate depression (Beck’s Depression Inventory (BDI-II) score 24/63). The range of ocular movements was normal, but he had slow vertical and horizontal saccadic velocities along with oculomotor apraxia [Video 1]. He had multiple motor tics involving head, face (lip and cheek regions), and right upper limbs (shoulder shrugging and flexion and adduction of shoulder) [Video 1]. There was no clinical evidence of chorea (including motor impersistence or hung-up reflexes), parkinsonism, pyramidal or cerebellar signs.

His routine blood investigations including peripheral smear for acanthocytes were unremarkable. Slit lamp examination for KF ring was negative, and serum ceruloplasmin was normal (33.4 mg/dL). Magnetic resonance imaging (MRI) brain showed early caudate atrophy [Figure 1]. Considering new adult-onset tic disorder with characteristic oculomotor abnormalities and cognitive and psychiatric manifestations, his CAG trinucleotide repeat length study for HD was sent which showed increased number of CAG repeats (Allele-1: 21 repeats and Allele-2: 44 repeats).

Figure 1: Early caudate atrophy on: (A) axial MRI T2-weighted image and (B) on T1-weighted MRI sequence

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He was treated with clonidine (0.3 mg/day) and tiapride (100 mg/day), following which he had mild-to-moderate improvement in motor tics and complete resolution of vocal tics. He has not shown any choreiform movements even after 1 year of follow-up.

Discussion

HD is a progressive neurodegenerative disease caused by dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene (HTT) on chromosome 4.^[3] Cardinal manifestations are chorea with other extrapyramidal features, eye movement abnormalities, cognitive decline, and behavioral disturbances. The phenotypic spectrum of extrapyramidal features includes variable combination of dystonia, tics, myoclonus, parkinsonism, tremor, and ataxia.^[4]

Tics occur rarely in HD, but it has been described in both juvenile and adult-onset HD in previous reports [Table 1].^[5] Although Tourette syndrome is the most frequent cause of tics, tics can occur secondary to structural insults to basal ganglia such as stroke, infection, head trauma, and certain drugs and toxins.^[6] Secondary tourettism has also been described as a prominent feature in some of the inherited neurodegenerative diseases like chorea-acanthocytosis, HD, pantothenate kinase-associated neurodegeneration, and Wilson’s disease.^[5] The diagnosis of HD becomes difficult in the absence of chorea, or in the presence of other movement disorders such as tics, dystonia, tremors, and particularly with negative family history.^[7],[8] Moreover, HD shares some common features with Tourette syndrome such as disinhibitive and impulsive behavior, attention deficit, obsessive-compulsive behavior, and positive family history, which makes distinction between the two more difficult.^[6] The presence of caudate atrophy on MRI brain helps in diagnosing cases with unusual presentations.^[9] Though both HD and tics are linked to dopaminergic system dysfunction in the basal ganglia suggesting a possible common pathophysiological link, the molecular mechanisms for this relationship need further investigations.^[10],[11]

Table 1: Clinical characteristics of previously published reports of HD presenting with tics/tourettism

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In our patient, the presence of adult-onset tics along with oculomotor abnormalities, cognitive decline, and depression prompted detailed evaluation and led us to the diagnosis of HD. Our case highlights the phenotypic variability of HD and the need to consider this diagnosis in cases of adult-onset tourettism even if family history is negative, particularly when associated with oculomotor abnormalities.

Acknowledgement

Nil.

Author contribution

A. Research project:   a. Conception: Dr. Mitesh Chandarana, Dr. Udit Saraf, Dr. Syam Krishnan  b. Organization: Dr. Mitesh Chandarana, Dr. Udit Saraf, Dr. Syam Krishnan  c. Execution: Dr. Mitesh Chandarana, Dr. Udit Saraf, Dr. Kalikavil Puthanveedu Divya, Dr. Syam Krishnan B. Statistical analysis: Not applicable as it is a case report   a. Design: Not applicable   b. Execution: Not applicable   c. Review and critique: Not applicable  C. Manuscript preparation:   a. Writing of the first draft: Dr. Mitesh Chandarana, Dr. Udit Saraf   b. Review and critique: Dr. Syam Krishnan, Dr. Kalikavil Puthanveedu Divya .

Ethical compliance statement

Written informed consent was taken from the patient, and permission was taken from the Head of the Institute for publication. This being a case-report, requirement for ethical clearance was waived off by the Institute in accordance with the prevailing norms.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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