% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Vogel:140167,
      author       = {Vogel, Adam P and Rommel, Natalie and Oettinger, Andreas
                      and Stoll, Lisa H and Kraus, Eva-Maria and Gagnon, Cynthia
                      and Horger, Marius and Krumm, Patrick and Timmann, Dagmar
                      and Storey, Elsdon and Schöls, Ludger and Synofzik,
                      Matthis},
      title        = {{C}oordination and timing deficits in speech and swallowing
                      in autosomal recessive spastic ataxia of
                      {C}harlevoix-{S}aguenay ({ARSACS}).},
      journal      = {Journal of neurology},
      volume       = {265},
      number       = {9},
      issn         = {0340-5354},
      address      = {Berlin},
      publisher    = {Springer73057},
      reportid     = {DZNE-2020-06489},
      pages        = {2060-2070},
      year         = {2018},
      abstract     = {Autosomal recessive spastic ataxia of Charlevoix-Saguenay
                      (ARSACS) is a rare early onset neurodegenerative disease
                      that typically results in ataxia, upper motor neuron
                      dysfunction and sensorimotor peripheral neuropathy.
                      Dysarthria and dysphagia are anecdotally described as key
                      features of ARSACS but the nature, severity and impact of
                      these deficits in ARSACS are not known. A comprehensive
                      quantitative and qualitative characterization of speech and
                      swallowing function will support diagnostics, provide
                      insights into the underlying pathology, and guide day-to-day
                      clinical management.11 consecutive non-Quebec ARSACS
                      patients were recruited, and compared to healthy
                      participants from several published and unpublished cohorts.
                      A comprehensive behavioural assessment including objective
                      acoustic analysis and expert perceptual ratings of motor
                      speech, the Clinical Assessment of Dysphagia in
                      Neurodegeneration (CADN), videofluoroscopy and standardized
                      tests of dysarthria and swallowing related quality of life
                      was conducted.Speech in this ARSACS cohort is characterized
                      by pitch breaks, prosodic deficits including reduced rate
                      and prolonged intervals, and articulatory deficits. The
                      swallowing profile was characterized by delayed initiation
                      of the swallowing reflex and late epiglottic closure. Four
                      out of ten patients were observed aspirating thin liquids on
                      videofluoroscopy. Patients report that they regularly cough
                      or choke on thin liquids and solids during mealtimes.
                      Swallowing and speech-related quality of life was worse than
                      healthy controls on all domains except sleep.The dysphagia
                      and dysarthria profile of this ARSACS cohort reflects
                      impaired coordination and timing. Dysphagia contributes to a
                      significant impairment in functional quality of life in
                      ARSACS, and appears to manifest distinctly from other ARSACS
                      dysfunctions such as ataxia or spasticity.},
      keywords     = {Adolescent / Adult / Child / Deglutition / Deglutition
                      Disorders: diagnostic imaging / Deglutition Disorders:
                      etiology / Deglutition Disorders: physiopathology / Female /
                      Humans / Male / Middle Aged / Muscle Spasticity: diagnostic
                      imaging / Muscle Spasticity: physiopathology / Muscle
                      Spasticity: therapy / Qualitative Research / Quality of Life
                      / Speech / Speech Disorders: diagnostic imaging / Speech
                      Disorders: etiology / Speech Disorders: physiopathology /
                      Spinocerebellar Ataxias: congenital / Spinocerebellar
                      Ataxias: diagnostic imaging / Spinocerebellar Ataxias:
                      physiopathology / Spinocerebellar Ataxias: therapy / Time
                      Factors / Young Adult},
      cin          = {AG Schöls / AG Gasser},
      ddc          = {610},
      cid          = {I:(DE-2719)5000005 / I:(DE-2719)1210000},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29968200},
      doi          = {10.1007/s00415-018-8950-4},
      url          = {https://pub.dzne.de/record/140167},
}