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Clinical variabilit...
Clinical variability of neuroacanthocytosis syndromes : A series of six patients with long follow-up
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- Dulski, J. (author)
- St Adalbert Hospital Copernicus PL
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- Sołtan, W. (author)
- St Adalbert Hospital Copernicus PL
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- Schinwelski, M. (author)
- Medical University of Gdansk
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- Rudzińska, M. (author)
- Medical University of Silesia
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- Wójcik-Pȩdziwiatr, M. (author)
- Krakow University Hospital
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- Wictor, L. (author)
- Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Schön, F. (author)
- Växjö Central Hospital
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- Puschmann, A. (author)
- Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Clinical Neurogenetics,Lund University Research Groups
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- Klempíř, J. (author)
- Charles University in Prague
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- Tilley, L. (author)
- International Blood Group Reference Laboratory
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- Roth, J. (author)
- Charles University in Prague
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- Tacik, P. (author)
- Mayo Clinic Florida
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- Fujioka, S. (author)
- Fukuoka University
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- Drozdowski, W. (author)
- Medical University of Bialystok
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- Sitek, E. J. (author)
- Medical University of Gdansk
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- Wszolek, Z. (author)
- Mayo Clinic Florida
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- Sławek, J. (author)
- Medical University of Gdansk
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(creator_code:org_t)
- Elsevier BV, 2016
- 2016
- English 6 s.
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In: Clinical Neurology and Neurosurgery. - : Elsevier BV. - 0303-8467. ; 147, s. 78-83
- Related links:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
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- Objective To provide clinical clues to differential diagnosis in patients with chorea and other movement disorders with blood acanthocytes. Methods We present a long-term video accompanied follow-up of six Caucasian patients with neuroacanthocytosis from several centers, three diagnosed with chorea-acanthocytosis (ChAc): 34-y.o.(no.1), 36-y.o.(no.2), 43-y.o.(no.3), two diagnosed with McLeod Syndrome (MLS): 52-y.o.(no.4), 61-y.o.(no.5) and one 63-y.o.(no.6), a brother of no.5, with clinical suspicion of MLS. Additionally we report pathological findings of the mother of two brothers with MLS reported in our series with acanthocytes on peripheral blood smear Results The patients had an unremarkable family history and were asymptomatic until adulthood. Patients no. 1,2,4,5,6 developed generalized chorea and patient no. 3 had predominant bradykinesia. Patients no. 1,2,3 had phonic and motor tics, additionally patients no. 1 and 2 exhibited peculiar oromandibular dystonia with tongue thrusting. In patients no. 2 and 3 dystonic supination of feet was observed, patient no. 3 subsequently developed bilateral foot drop. Patients no. 2 and 4 had signs of muscle atrophy. Tendon reflexes were decreased or absent and electroneurography demonstrated sensorimotor neuropathy in patients no. 1,2,3,4,5, except no. 6. Generalized seizures were seen in patients no. 2,3,5,6 and myoclonic jerks in patient no. 1. Cognitive deterioration was reported in patients no. 1,2,3,5,6. Serum creatine kinase levels were elevated in all six patients. Conclusion We highlight the variability of clinical presentation of neuroacanthocytosis syndromes and the long time from the onset to diagnosis with the need to screen the blood smears in uncertain cases, however, as in one of our cases acanthocytes may even be not found. Based on our observations and data from the literature we propose several red flags that should raise the suspicion of an NA syndrome in a patient with a movement disorder: severe orofacial dyskinesia with tongue and lip-biting (typical of ChAc), feeding dystonia, psychiatric and cognitive disturbances, seizures, peripheral neuropathy, elevation of creatine kinase, elevation of transaminases, hepatosplenomegaly, cardiomyopathy and arrhythmias, and an X-linked pattern of inheritance (McLeod Syndrome, MLS).
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- Acanthocytes
- Chorea
- McLeod syndrome
- Neuroacanthocytosis
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Dulski, J.
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Sołtan, W.
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Schinwelski, M.
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Rudzińska, M.
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Wójcik-Pȩdziwiat ...
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Wictor, L.
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show more...
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Schön, F.
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Puschmann, A.
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Klempíř, J.
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Tilley, L.
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Roth, J.
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Tacik, P.
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Fujioka, S.
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Drozdowski, W.
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Sitek, E. J.
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Wszolek, Z.
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Sławek, J.
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show less...
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- MEDICAL AND HEALTH SCIENCES
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and Neurology
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Clinical Neurolo ...
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Lund University