Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?

Klas Wictorin; Björn Brådvik; Karin Nilsson; Maria Soller; Danielle van Westen; Gunnel Bynke; Peter Bauer; Ludger Schöls; Andreas Puschmann

doi:10.1016/j.parkreldis.2014.03.029

Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?

Klas Wictorin, Björn Brådvik, Karin Nilsson, Maria Soller, Danielle van Westen, Gunnel Bynke, Peter Bauer, Ludger Schöls, Andreas Puschmann

Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift › Peer review

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Sammanfattning

We describe the clinical characteristics of a Swedish family with autosomal dominant cerebellar ataxia, sensory and autonomic neuropathy, additional neurological features and unknown genetic cause.

Originalspråk	engelska
Sidor (från-till)	748-754
Tidskrift	Parkinsonism & Related Disorders
Volym	20
Nummer	7
DOI	https://doi.org/10.1016/j.parkreldis.2014.03.029
Status	Published - 2014

Bibliografisk information

The information about affiliations in this record was updated in December 2015.
The record was previously connected to the following departments: Neurology, Lund (013027000), Ophthalmology (Lund) (013043000), Diagnostic Radiology, (Lund) (013038000), Division of Clinical Genetics (013022003), Department of Psychogeriatrics (013304000)

Ämnesklassifikation (UKÄ)

Neurologi

Tillgång till dokument

10.1016/j.parkreldis.2014.03.029

Elsevier_Wictorin_et_al

http://www.ncbi.nlm.nih.gov/pubmed/24787759?dopt=Abstract

Citera det här

@article{aca5d35195a54904bdd8c24a80b25bee,

title = "Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?",

abstract = "We describe the clinical characteristics of a Swedish family with autosomal dominant cerebellar ataxia, sensory and autonomic neuropathy, additional neurological features and unknown genetic cause.",

author = "Klas Wictorin and Bj{\"o}rn Br{\aa}dvik and Karin Nilsson and Maria Soller and {van Westen}, Danielle and Gunnel Bynke and Peter Bauer and Ludger Sch{\"o}ls and Andreas Puschmann",

note = "The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Neurology, Lund (013027000), Ophthalmology (Lund) (013043000), Diagnostic Radiology, (Lund) (013038000), Division of Clinical Genetics (013022003), Department of Psychogeriatrics (013304000)",

year = "2014",

doi = "10.1016/j.parkreldis.2014.03.029",

language = "English",

volume = "20",

pages = "748--754",

journal = "Parkinsonism & Related Disorders",

issn = "1873-5126",