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Late Onset Levodopa Responsive Huntington's Disease with Minimal J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.68.2.238 on 1 February 2000. Downloaded from 238 J Neurol Neurosurg Psychiatry 2000;68:238–241 SHORT REPORT Late onset levodopa responsive Huntington’s disease with minimal chorea masquerading as Parkinson plus syndrome I Reuter, M T M Hu, T C Andrews, D J Brooks, C Clough, K Ray Chaudhuri Abstract appreciated.5 However, the mean age of onset Huntington’s disease is characterised by of “rigid Huntington’s disease” documented in hyperkinetic movements, mainly chorea, this review ranged from 22.2 years to 37.8 cognitive dysfunction, and psychiatric ab- years, which is substantially younger than that normalities. Non-dopa responsive parkin- of our patients. To our knowledge, only two sonism occurs in the later stages of patients with late onset Huntington’s disease choreic disease or as the predominant and levodopa responsive parkinsonism have feature of juvenile patients (Westphal been previously reported. Trosch and Le Witt8 variant). Late onset Huntington’s disease reported one patient with late onset Hunting- presenting as levodopa responsive parkin- ton’s disease with parkinsonism responsive to sonism is rare. A series of four patients levodopa and Racette and Perlmutter9 reported with late onset Huntington’s disease pre- the case of a 38 year old man with an akinetic- senting as levodopa responsive parkinson- rigid syndrome, loss of balance, and mild ism and cardiovascular dysautonomia, dementia relieved by high doses of levodopa. In initially misdiagnosed as multiple system this paper, we report a series of four patients atrophy (MSA) in three patients, is re- with genetically confirmed late onset (mean The Regional ported. Levodopa treatment did not un- age of onset 56.75 years) Huntington’s disease Movement Disorders mask significant chorea. These cases presenting with levodopa responsive parkin- Unit, Department of sonism along with combinations of limb dysto- Neurology, Regional suggest the presence of a distinct pheno- Neurosciences Centre, typic variant of Huntington’s disease to be nia, gait apraxia, torticollis, and myoclonus King’s College added to the diVerential diagnosis of other causing considerable diagnostic confusion. Hospital, Guy’s, akinetic rigid syndromes. Three patients were initially misdiagnosed as King’s, and St Thomas (J Neurol Neurosurg Psychiatry 2000;68:238–241) having multiple system atrophy (MSA). Addi- School of Medicine, tional features of note in these patients http://jnnp.bmj.com/ London, UK Keywords: Huntington’s disease; chorea; dopa- included an uncertain family history, minimal I Reuter responsive; multiple system atrophy; postural hypoten- chorea, and minimal cognitive impairment. MTMHu sion C Clough K Ray Chaudhuri Case reports MRC Cyclotron Unit, The classic presentations of Huntington’s CASE 1 Imperial College disease, an autosomal dominant neurodegen- A 63 year old right handed white man with a School of Medicine, erative disorder associated with a CAG triplet presumptive diagnosis of MSA was referred for on September 28, 2021 by guest. Protected copyright. Hammersmith repeat expansion in the IT 15 gene, includes tertiary opinion. He gave a 3 year history of Hospital, London, UK chorea, dystonia and tics, a range of neuropsy- slowly progressive ataxic gait, falls, abnormal MTMHu chiatric abnormalities, dementia, and disorders posturing of his right arm, and slurred speech. T C Andrews 1–3 D J Brooks of gait. Considerable heterogeneity, however, On examination, he had a dominantly axial has been recognised in relation to the clinical akinetic rigid syndrome with a wide based gait, University Hospital phenotype.4–6 Non-levodopa responsive parkin- impaired postural reflexes, and a tendency to Lewisham, London, sonism may be the dominant presenting fall backwards. Dystonic posturing of his right UK feature in young patients, the so called “West- arm and mild chorea of the left fingers were K Ray Chaudhuri phal” variant, which seems to account for noted and rigidity was more marked in the Correspondence to: about 85% of childhood onset Huntington’s right upper limb. He had mild diYculties on Dr K Ray Chaudhuri, disease.57 Other phenotypic variants such as routine cognitive testing and eye movements Department of Clinical patients with adult onset disease with minimal showed a saccadic pursuit movement but no Neurosciences, Mapother House, King’s College cognitive impairment and pure chorea have supranuclear gaze palsy. There were no py- Hospital, Denmark Hill, been reported.4 In adults non-iatrogenic par- ramidal signs. Family history was that of London SE5 9RS, UK kinsonism as a presenting feature of late onset “probable Parkinson’s disease” in a paternal email [email protected] Huntington’s disease (onset after 50 years age) aunt and “tremor” in a maternal aunt. He had is rare. Bittenbender and Quadfasel reviewed mild urinary frequency but sphincter electro- Received 7 April 1999 and in the literature on akinetic and rigid forms of myography (SEMG) studies were highly ab- revised form 17 September 1999 Huntington’s disease and concluded that the normal. Neuropsychometry showed a verbal Accepted 21 October 1999 rigid form is commoner than generally IQ of 81 and performance IQ of 76, with an J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.68.2.238 on 1 February 2000. Downloaded from Late onset Huntington’s disease 239 Patient characteristics Levodopa Disease CAG duration Initial Estimated Repeat Dose Family Age (y) diagnosis IQ length mg/day Response history Chorea Dystonia SEMG 63 5 MSA 91 18/43 400 ++ P ± −AB 67 7 PD/MSA 95 19/44 800 +++ P − CC/LL ND 52 7 ARS 94 17/46 200 + C/HD − UL ND 68 4 MSA NA 17/42 400 ++ P/E/M ± LL ND P=parkinsonism; C=chorea; E=epilepsy; M=motor neuron disease; ARS=akinetic-rigid syndrome; NA=not available; ND=not done; CC=craniocervical; LL=lower limb; UL=upper limb; AB=abnormal. estimated IQ of 91. Verbal subtests showed ing slowness and diYculty in walking. She had average results and non-verbal reasoning and a family history of movement disorders includ- memory functioning was borderline defective. ing chorea and one sister was known to have Language functioning and perception was parkinsonism, later diagnosed as Huntington’s good. Brain MRI showed generalised atrophy disease. On examination, she had an akinetic and single photon emission tomography rigid syndrome with frequent gait freezing and (SPECT) indicated left temporoparietal. hy- reduced left arm swing with dystonic posturing poperfusion. A standardised levodopa chal- of the left hand. She had reduced saccadic and lenge test showed greater than 30% improve- pursuit upgaze but no supranuclear downgaze ment on the modified King’s College Hospital paresis, impersistence of tongue protrusion, or Parkinson’s disease rating scale chorea. The initial diagnosis was thought to be (KCHPDRS).10 However, because of coexist- a variant of akinetic rigid syndrome. Levodopa ent mild chorea and a family history of parkin- therapy at a dose of 600 mg produced moder- sonism, genetic tests for Huntington’s disease ate benefit but unmasked slight chorea of her and dentatorubro-pallidoluysian atrophy face and limbs after therapy for 1 year. (DRPLA) were carried out and testing for Neuropsychometry showed a verbal IQ of 90 Huntington’s disease was positive (table). At 2 and a performance IQ of 95 with an estimated year follow up, the patient has continuing levo- IQ of 94. Other tests were rated as average. A dopa responsiveness (400 mg/day) with mini- genetic test for Huntington’s disease was posi- mal chorea and no deterioration in cognitive tive (table). Levodopa therapy had to be function. discontinued because of dyskinesias and de- creased response with time. CASE 2 A 67 year old right handed white man was referred witha6yearhistory of slowness of CASE 4 manual dexterity and gait. He and his carer A 68 year old white man presented with a 4 denied history of cognitive decline, falls, or uri- year history of unsteady gait and swallowing nary diYculties although there was erectile diYculties. There was history of parkinsonism, dysfunction. His father was thought to have epilepsy, motor neuron disease, and narcolepsy Parkinson’s disease and family history was oth- in the family. On examination, he had mild asymmetric parkinsonism with global hyper- erwise negative. On examination, he had a http://jnnp.bmj.com/ bradykinesia dominant akinetic rigid syndrome reflexia, extensor plantar responses, heel-toe with a left sided emphasis and impaired ataxia, dystonia of lower limbs, but normal eye postural reflexes. In addition, there was a right movements. There was a mild dysdiadochoki- laterocollis and dystonic posturing of his left nesis. The diVerential diagnoses included hand. Eye movements showed breaking up of spinocerebellar ataxia, MSA, and other heredi- smooth pursuit but no supranuclear gaze palsy tary degenerative akinetic rigid syndromes. or impersistence of tongue protrusion. A levo- Levodopa therapy (300 mg) improved bradyki- nesia and rigidity and the patient continues dopa challenge test was strongly positive with on September 28, 2021 by guest. Protected copyright. greater than 40% improvement in KCHPDRS with 400 mg of levodopa at 2 year follow up. and he was thought to have Parkinson’s disease Formal neuropsychometry could not be per- or the parkinsonian variant of MSA (MSA-P). formed but a mini mental state examination Neuropsychometry showed a verbal IQ of 105 documented a score of 25/30. Brain MRI and a performance IQ of 93 with an estimated showed generalised cerebral and caudate atro- IQ of 95. All other neuropsychological testing phy. A genetic test for Huntington’s disease was was rated at the average level with no positive (table). significant impairment. Brain MRI showed In all patients the following tests were abnormal enhancement at the striatal region. normal or negative: an autoantibody and acan- Genetic tests performed because of family his- thocyte screen, thyroid function tests, vitamin tory of parkinsonism and dystonia at onset of B12/folate concentrations, angiotensin con- illness was negative for DRPLA but positive for verting enzymes, lysosomal enzymes, urinary Huntington’s disease (table).
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