New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.

Domenico Di Raimondo, Janneke G. Langendonk, Mels Hoogendoorn, J.H. Paul Wilson, Mirjam Langeveld, Agnita J.W. Boon, Lena H.P. Vroegindeweij, Anneke J.A. Kievit

Risultato della ricerca: Article

9 Citazioni (Scopus)

Abstract

INTRODUCTION: The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome. Currently, the neurological phenotype of aceruloplasminemia has been mainly described in Japanese patients. This 'classical' phenotype consists of cerebellar ataxia, hyperkinetic movement disorders and cognitive decline. In this study we describe the spectrum of neurological disease in Caucasian patients. METHODS: Data on neurological presentation and follow-up were gathered from both our patients, homozygous for the G631R mutation in the CP gene, and other published Caucasian cases. Neurological features of aceruloplasminemia in Caucasian patients were compared to those summarized in Japanese patients. RESULTS: 21 Caucasian patients, both ours and the described cases, displayed a wide range of movement disorders with predominant chorea, parkinsonism and ataxia, and also tremor and dystonia. In addition to cognitive decline, nearly half of the Caucasian patients presented with psychiatric changes, including depression, anxiety and behavioral changes. In one-third of the neurologically symptomatic Caucasian patients, cognitive- or psychiatric changes were the first neurological manifestations of aceruloplasminemia. CONCLUSIONS: Aceruloplasminemia in Caucasian patients can present with a wider range and a different order of neurological symptoms than previously described in Japanese patients. Psychiatric changes and parkinsonism can be added to the spectrum of neurological disease. Cognitive- or psychiatric changes may be the first neurological manifestations of aceruloplasminemia.
Lingua originaleEnglish
pagine (da-a)33-40
Numero di pagine8
RivistaPARKINSONISM & RELATED DISORDERS
Volume36
Stato di pubblicazionePublished - 2017

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Phenotype
Psychiatry
Neurologic Manifestations
Movement Disorders
Parkinsonian Disorders
Familial apoceruloplasmin deficiency
Hyperkinesis
Chorea
Cerebellar Ataxia
Dystonia
Tremor
Ataxia
Anxiety
Depression
Mutation
Genes

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology
  • Geriatrics and Gerontology

Cita questo

Di Raimondo, D., Langendonk, J. G., Hoogendoorn, M., Wilson, J. H. P., Langeveld, M., Boon, A. J. W., ... Kievit, A. J. A. (2017). New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients. PARKINSONISM & RELATED DISORDERS, 36, 33-40.

New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients. / Di Raimondo, Domenico; Langendonk, Janneke G.; Hoogendoorn, Mels; Wilson, J.H. Paul; Langeveld, Mirjam; Boon, Agnita J.W.; Vroegindeweij, Lena H.P.; Kievit, Anneke J.A.

In: PARKINSONISM & RELATED DISORDERS, Vol. 36, 2017, pag. 33-40.

Risultato della ricerca: Article

Di Raimondo, D, Langendonk, JG, Hoogendoorn, M, Wilson, JHP, Langeveld, M, Boon, AJW, Vroegindeweij, LHP & Kievit, AJA 2017, 'New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.', PARKINSONISM & RELATED DISORDERS, vol. 36, pagg. 33-40.
Di Raimondo D, Langendonk JG, Hoogendoorn M, Wilson JHP, Langeveld M, Boon AJW e altri. New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients. PARKINSONISM & RELATED DISORDERS. 2017;36:33-40.
Di Raimondo, Domenico ; Langendonk, Janneke G. ; Hoogendoorn, Mels ; Wilson, J.H. Paul ; Langeveld, Mirjam ; Boon, Agnita J.W. ; Vroegindeweij, Lena H.P. ; Kievit, Anneke J.A. / New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients. In: PARKINSONISM & RELATED DISORDERS. 2017 ; Vol. 36. pagg. 33-40.
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title = "New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.",
abstract = "INTRODUCTION: The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome. Currently, the neurological phenotype of aceruloplasminemia has been mainly described in Japanese patients. This 'classical' phenotype consists of cerebellar ataxia, hyperkinetic movement disorders and cognitive decline. In this study we describe the spectrum of neurological disease in Caucasian patients. METHODS: Data on neurological presentation and follow-up were gathered from both our patients, homozygous for the G631R mutation in the CP gene, and other published Caucasian cases. Neurological features of aceruloplasminemia in Caucasian patients were compared to those summarized in Japanese patients. RESULTS: 21 Caucasian patients, both ours and the described cases, displayed a wide range of movement disorders with predominant chorea, parkinsonism and ataxia, and also tremor and dystonia. In addition to cognitive decline, nearly half of the Caucasian patients presented with psychiatric changes, including depression, anxiety and behavioral changes. In one-third of the neurologically symptomatic Caucasian patients, cognitive- or psychiatric changes were the first neurological manifestations of aceruloplasminemia. CONCLUSIONS: Aceruloplasminemia in Caucasian patients can present with a wider range and a different order of neurological symptoms than previously described in Japanese patients. Psychiatric changes and parkinsonism can be added to the spectrum of neurological disease. Cognitive- or psychiatric changes may be the first neurological manifestations of aceruloplasminemia.",
author = "{Di Raimondo}, Domenico and Langendonk, {Janneke G.} and Mels Hoogendoorn and Wilson, {J.H. Paul} and Mirjam Langeveld and Boon, {Agnita J.W.} and Vroegindeweij, {Lena H.P.} and Kievit, {Anneke J.A.}",
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T1 - New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.

AU - Di Raimondo, Domenico

AU - Langendonk, Janneke G.

AU - Hoogendoorn, Mels

AU - Wilson, J.H. Paul

AU - Langeveld, Mirjam

AU - Boon, Agnita J.W.

AU - Vroegindeweij, Lena H.P.

AU - Kievit, Anneke J.A.

PY - 2017

Y1 - 2017

N2 - INTRODUCTION: The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome. Currently, the neurological phenotype of aceruloplasminemia has been mainly described in Japanese patients. This 'classical' phenotype consists of cerebellar ataxia, hyperkinetic movement disorders and cognitive decline. In this study we describe the spectrum of neurological disease in Caucasian patients. METHODS: Data on neurological presentation and follow-up were gathered from both our patients, homozygous for the G631R mutation in the CP gene, and other published Caucasian cases. Neurological features of aceruloplasminemia in Caucasian patients were compared to those summarized in Japanese patients. RESULTS: 21 Caucasian patients, both ours and the described cases, displayed a wide range of movement disorders with predominant chorea, parkinsonism and ataxia, and also tremor and dystonia. In addition to cognitive decline, nearly half of the Caucasian patients presented with psychiatric changes, including depression, anxiety and behavioral changes. In one-third of the neurologically symptomatic Caucasian patients, cognitive- or psychiatric changes were the first neurological manifestations of aceruloplasminemia. CONCLUSIONS: Aceruloplasminemia in Caucasian patients can present with a wider range and a different order of neurological symptoms than previously described in Japanese patients. Psychiatric changes and parkinsonism can be added to the spectrum of neurological disease. Cognitive- or psychiatric changes may be the first neurological manifestations of aceruloplasminemia.

AB - INTRODUCTION: The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome. Currently, the neurological phenotype of aceruloplasminemia has been mainly described in Japanese patients. This 'classical' phenotype consists of cerebellar ataxia, hyperkinetic movement disorders and cognitive decline. In this study we describe the spectrum of neurological disease in Caucasian patients. METHODS: Data on neurological presentation and follow-up were gathered from both our patients, homozygous for the G631R mutation in the CP gene, and other published Caucasian cases. Neurological features of aceruloplasminemia in Caucasian patients were compared to those summarized in Japanese patients. RESULTS: 21 Caucasian patients, both ours and the described cases, displayed a wide range of movement disorders with predominant chorea, parkinsonism and ataxia, and also tremor and dystonia. In addition to cognitive decline, nearly half of the Caucasian patients presented with psychiatric changes, including depression, anxiety and behavioral changes. In one-third of the neurologically symptomatic Caucasian patients, cognitive- or psychiatric changes were the first neurological manifestations of aceruloplasminemia. CONCLUSIONS: Aceruloplasminemia in Caucasian patients can present with a wider range and a different order of neurological symptoms than previously described in Japanese patients. Psychiatric changes and parkinsonism can be added to the spectrum of neurological disease. Cognitive- or psychiatric changes may be the first neurological manifestations of aceruloplasminemia.

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