Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

Koens, L. H.; Kuiper, A.; Coenen, M. A.; Elting, J. W.J.; De Vries, J. J.; Engelen, M.; Koelman, J. H.T.M.; Van Spronsen, F. J.; Spikman, J. M.; De Koning, T. J.; Tijssen, M. A.J.

Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

Mark

Koens, L. H. ; Kuiper, A. ; Coenen, M. A. ; Elting, J. W.J. ; De Vries, J. J. ; Engelen, M. ; Koelman, J. H.T.M. ; Van Spronsen, F. J. ; Spikman, J. M. and De Koning, T. J. ^LU , et al. (2016) In Orphanet Journal of Rare Diseases 11(1).

Abstract: Background: Niemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral symptoms, presentation in adolescent and adult onset variants is often with neurological symptoms. The most frequently reported presenting symptoms of NP-C in adulthood are psychiatric symptoms (38 %), cognitive decline (23 %) and ataxia (20 %). Myoclonus can be present, but its value in early diagnosis and the evolving clinical phenotype in NP-C is unclear. In this paper we present eight Dutch cases of NP-C of whom five with myoclonus. Methods: Eight patients with genetically confirmed NP-C were recruited from two Dutch University Medical Centers. A structured... (More); Background: Niemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral symptoms, presentation in adolescent and adult onset variants is often with neurological symptoms. The most frequently reported presenting symptoms of NP-C in adulthood are psychiatric symptoms (38 %), cognitive decline (23 %) and ataxia (20 %). Myoclonus can be present, but its value in early diagnosis and the evolving clinical phenotype in NP-C is unclear. In this paper we present eight Dutch cases of NP-C of whom five with myoclonus. Methods: Eight patients with genetically confirmed NP-C were recruited from two Dutch University Medical Centers. A structured interview and neuropsychological tests (for working and verbal memory, attention and emotion recognition) were performed. Movement disorders were assessed using a standardized video protocol. Quality of life was evaluated by questionnaires (Rand-36, SIP-68, HAQ). In four of the five patients with myoclonic jerks simultaneous EEG with EMG was performed. Results: A movement disorder was the initial neurological symptom in six patients: three with myoclonus and three with ataxia. Two others presented with psychosis. Four experienced cognitive deficits early in the course of the disease. Patients showed cognitive deficits in all investigated domains. Five patients showed myoclonic jerks, including negative myoclonus. In all registered patients EEG-EMG coherence analysis and/or back-averaging proved a cortical origin of myoclonus. Patients with more severe movement disorders experienced significantly more physical disabilities. Conclusions: Presenting neurological symptoms of NP-C include movement disorders, psychosis and cognitive deficits. At current neurological examination movement disorders were seen in all patients. The incidence of myoclonus in our cohort was considerably higher (63 %) than in previous publications and it was the presenting symptom in 38 %. A cortical origin of myoclonus was demonstrated. Our data suggest that myoclonus may be overlooked in patients with NP-C. All patients scored significantly lower on physical domains of HRQoL. Symptomatic treatment of movement disorders may improve physical functioning and subsequently HRQoL.
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Please use this url to cite or link to this publication: https://lup.lub.lu.se/record/0eb195b1-aac3-4b23-a2e8-cce63c4966a4

author

Koens, L. H. ; Kuiper, A. ; Coenen, M. A. ; Elting, J. W.J. ; De Vries, J. J. ; Engelen, M. ; Koelman, J. H.T.M. ; Van Spronsen, F. J. ; Spikman, J. M. and De Koning, T. J. ^LU , et al. (More)

Koens, L. H. ; Kuiper, A. ; Coenen, M. A. ; Elting, J. W.J. ; De Vries, J. J. ; Engelen, M. ; Koelman, J. H.T.M. ; Van Spronsen, F. J. ; Spikman, J. M. ; De Koning, T. J. ^LU and Tijssen, M. A.J. (Less)

publishing date

2016-09-01

type

Contribution to journal

publication status

published

subject

Psychiatry

keywords

Ataxia, Cognitive deficits, Cortical myoclonus, EEG-EMG coherence, Niemann-Pick type C

in

Orphanet Journal of Rare Diseases

volume

11

issue

1

article number

121

publisher

BioMed Central (BMC)

external identifiers

pmid:27581084
scopus:84985026312

ISSN

1750-1172

DOI

10.1186/s13023-016-0502-3

language

English

LU publication?

no

id

0eb195b1-aac3-4b23-a2e8-cce63c4966a4

date added to LUP

2020-02-26 09:54:41

date last changed

2024-06-27 14:45:22

@article{0eb195b1-aac3-4b23-a2e8-cce63c4966a4,
  abstract     = {{<p>Background: Niemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral symptoms, presentation in adolescent and adult onset variants is often with neurological symptoms. The most frequently reported presenting symptoms of NP-C in adulthood are psychiatric symptoms (38 %), cognitive decline (23 %) and ataxia (20 %). Myoclonus can be present, but its value in early diagnosis and the evolving clinical phenotype in NP-C is unclear. In this paper we present eight Dutch cases of NP-C of whom five with myoclonus. Methods: Eight patients with genetically confirmed NP-C were recruited from two Dutch University Medical Centers. A structured interview and neuropsychological tests (for working and verbal memory, attention and emotion recognition) were performed. Movement disorders were assessed using a standardized video protocol. Quality of life was evaluated by questionnaires (Rand-36, SIP-68, HAQ). In four of the five patients with myoclonic jerks simultaneous EEG with EMG was performed. Results: A movement disorder was the initial neurological symptom in six patients: three with myoclonus and three with ataxia. Two others presented with psychosis. Four experienced cognitive deficits early in the course of the disease. Patients showed cognitive deficits in all investigated domains. Five patients showed myoclonic jerks, including negative myoclonus. In all registered patients EEG-EMG coherence analysis and/or back-averaging proved a cortical origin of myoclonus. Patients with more severe movement disorders experienced significantly more physical disabilities. Conclusions: Presenting neurological symptoms of NP-C include movement disorders, psychosis and cognitive deficits. At current neurological examination movement disorders were seen in all patients. The incidence of myoclonus in our cohort was considerably higher (63 %) than in previous publications and it was the presenting symptom in 38 %. A cortical origin of myoclonus was demonstrated. Our data suggest that myoclonus may be overlooked in patients with NP-C. All patients scored significantly lower on physical domains of HRQoL. Symptomatic treatment of movement disorders may improve physical functioning and subsequently HRQoL.</p>}},
  author       = {{Koens, L. H. and Kuiper, A. and Coenen, M. A. and Elting, J. W.J. and De Vries, J. J. and Engelen, M. and Koelman, J. H.T.M. and Van Spronsen, F. J. and Spikman, J. M. and De Koning, T. J. and Tijssen, M. A.J.}},
  issn         = {{1750-1172}},
  keywords     = {{Ataxia; Cognitive deficits; Cortical myoclonus; EEG-EMG coherence; Niemann-Pick type C}},
  language     = {{eng}},
  month        = {{09}},
  number       = {{1}},
  publisher    = {{BioMed Central (BMC)}},
  series       = {{Orphanet Journal of Rare Diseases}},
  title        = {{Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C}},
  url          = {{http://dx.doi.org/10.1186/s13023-016-0502-3}},
  doi          = {{10.1186/s13023-016-0502-3}},
  volume       = {{11}},
  year         = {{2016}},
}

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Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C