Vol 57, No 5 (2023)
Letter to the Editors
Published online: 2023-04-20

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Atypical motor presentation of Huntington’s Disease

Katarzyna Śmiłowska1, Daniel van Wamelen234
Pubmed: 37078132
Neurol Neurochir Pol 2023;57(5):450-451.

Abstract

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LETTER TO THE EDITORS

Neurologia i Neurochirurgia Polska

Polish Journal of Neurology and Neurosurgery

2023, Volume 57, no. 5, pages: 450–451

DOI: 10.5603/PJNNS.a2023.0025
Copyright © 2022 Polish Neurological Society

ISSN: 0028-3843, e-ISSN: 1897-4260

Atypical motor presentation of Huntington’s Disease

Katarzyna Śmiłowska1Daniel van Wamelen2–4
1Department of Neurology, Regional Specialist Hospital of St. Barbara in Sosnowiec, Poland
2Department of Neuroimaging, King’s College London Institute of Psychiatry, Psychology & Neuroscience, London, United Kingdom
3Parkinson’s Foundation Centre of Excellence at King’s College Hospital, London, United Kingdom
4Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands

Address for correspondence: Katarzyna Śmiłowska, Department of Neurology, Regional Specialist Hospital of St. Barbara in Sosnowiec, Plac Medyków 1 St.,
41–200 Sosnowiec, Poland; e-mail: kasia.smilowska@gmail.com

Received: 08.08.2022 Accepted: 28.09.2022 Early publication date: 17.11.2022

Key words: Huntington’s Disease, genotype, phenotype, atypical

(Neurol Neurochir Pol 2023; 57 (5): 450–451)

To the Editors

Huntington’s Disease (HD; OMIM# 143100) is a genetic neurodegenerative disorder classically characterised by motor symptoms including chorea, psychiatric and behavioural disturbances, and progressive cognitive deterioration [1]. Chorea, flowing from one body part to another in a non-patterned fashion, is the most characteristic clinical phenomenon in adult-onset HD. On the other hand, patients may also develop an akinetic-rigid syndrome, which is the most common presentation of juvenile HD (known as Westphal variant) in addition to representing the advanced stage of HD when chorea is often no longer present. Less common initial motor presentations of HD exist, e.g. dystonia can be the first noticeable symptom of HD, as well as tics, and cerebellar and pyramidal signs [2].

Here, we describe an uncommon clinical manifestation of HD in a genetically proven case and underline the fact that HD can display a much wider phenotypic spectrum than is usually considered.

A 53-year-old male developed progressive walking difficulties with marked postural instability and balance impairment over a six-month period, in addition to dysarthria, clumsiness in the upper limbs with dystonic posturing, and memory impairment. The patient’s grandmother had been affected by a similar condition without a formal diagnosis, his mother had been affected by dementia, and his daughter had a diagnosis of Down’s syndrome. On examination, the patient presented with hypomimia, and his eye movements disclosed broken smooth pursuit. He had bilateral upper limb bradykinesia and mild apraxia. Additionally, he presented with generalised dystonia mainly affecting the trunk and upper extremities. His gait was only minimally broad-based, and he was unable to perform tandem gait. Brain MRI revealed prominent putaminal atrophy, and iron deposition in the basal ganglia on T2 sequences, with FC/CC of 1.5 and an increased CC/IT ratio to 0.22 (Fig. 1).
The patient was screened for iron storage diseases and Wilson’s Disease, both of which came back as negative. Molecular analysis of HTT showed a mutant allele with 43 CAG repeats, consistent with a diagnosis of HD. Six months after his initial presentation, he developed generalised chorea.

Figure 1. Magnetic Resonance Imaging showing brain iron deposition

Here we report a patient with atypical presenting features of HD, namely dystonia. Despite chorea being the most prominent motor symptom of adult-onset HD, recent studies have shed light on non-choreatic movement disorders in HD, either at onset or throughout the disease course [3]. Interestingly, non-choreatic presentations have been correlated with longer CAG repeat expansions and earlier onset [4]. Additionally, MRI has revealed elevated brain iron accumulation (Fig. 1), which had been previously described in HD patients as a result of alteration in metal homeostasis. However, no specific motor presentation has been associated with this brain image [5].

The most common manifestations of HD, other than chorea, seem to be dystonia, ataxia, parkinsonism and tics, although exact numbers are lacking. Parkinsonian signs of HD are less often reported than chorea, but seem to progress in a fairly linear pattern. Becker et al. reported one patient
with segmental dystonia, while Hu et al. reported one patient with
early-onset blepharospasm followed by cervical dystonia
with torticollis and retrocollis; approximately 12% of adult-onset HD patients manifest with prominent dystonia [3].

In conclusion, diagnostic difficulties may arise when HD manifests atypically with non-choreatic motor symptoms. Greater awareness of rare presentations of HD, especially when symptoms overlap with psychiatric co-morbidities, and diligent history-taking regarding the patient’s family, will improve diagnosis and aid management. Our case serves to highlight that HD can display a much wider phenotypic spectrum than that which is classically considered, especially in extending to symptoms beyond chorea.

Conflict of interest: None.

Funding: None.

Acknowledgments: The authors would like to express special thanks to Prof. Kailash Bhatia for his consultations on the presented patient.

References

  1. van Duijn E, Kingma EM, van der Mast RC. Psychopathology in verified Huntington’s disease gene carriers. J Neuropsychiatry Clin Neurosci. 2007; 19(4): 441–448, doi: 10.1176/jnp.2007.19.4.441, indexed in Pubmed: 18070848.
  2. Squitieri F, Berardelli A, Nargi E, et al. Atypical movement disorders in the early stages of Huntington’s disease: clinical and genetic analysis. Clin Genet. 2000; 58(1): 50–56, doi: 10.1034/j.1399-0004.2000.580108.x, indexed in Pubmed: 10945661.
  3. Louis ED, Anderson KE, Moskowitz C, et al. Dystonia-predominant adult-onset Huntington disease: association between motor phenotype and age of onset in adults. Arch Neurol. 2000; 57(9): 1326–1330, doi: 10.1001/archneur.57.9.1326, indexed in Pubmed: 10987900.
  4. Hu MT, Chaudhuri KR. Repetitive belching, aerophagia, and torticollis in Huntington’s disease: a case report. Mov Disord. 1998; 13(2): 363––365, doi: 10.1002/mds.870130232, indexed in Pubmed: 9539359.
  5. Macerollo A, Perry R, Stamelou M, et al. Susceptibility-weighted imaging changes suggesting brain iron accumulation in Huntington’s disease: an epiphenomenon which causes diagnostic difficulty. Eur
    J Neurol. 2014; 21(2): e16–e17, doi: 10.1111/ene.12298, indexed in Pubmed: 24571106.



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