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@INBOOK{Peikert:281114,
      author       = {Peikert, Kevin and Dobson-Stone, Carol and Rampoldi, Luca
                      and Miltenberger-Miltenyi, Gabriel and Neiman, Aaron and De
                      Camilli, Pietro and Hermann, Andreas and Walker, Ruth H and
                      Danek, Adrian},
      title        = {{VPS}13{A} {D}isease},
      publisher    = {University of Washington, Seattle},
      reportid     = {DZNE-2025-01075},
      pages        = {Online},
      year         = {2023},
      comment      = {GeneReviews},
      booktitle     = {GeneReviews},
      abstract     = {Excerpt:Clinical characteristics: VPS13A disease, caused by
                      VPS13A loss-of-function pathogenic variants, is
                      characterized by a spectrum of movement disorders (chorea,
                      dystonia, tics, sometimes parkinsonism); predominant
                      orofacial choreic and dystonic movements and tics (with
                      involuntary tongue protrusion on attempted swallowing,
                      habitual tongue and lip biting resulting in self-mutilation,
                      involuntary vocalizations); dysarthria and dysphagia;
                      psychiatric, cognitive, and behavioral changes ("frontal
                      lobe type"); seizures; and progressive neuromuscular
                      involvement. Huntingtonism (triad of progressive movement
                      disorder and cognitive and behavioral alterations) is a
                      typical presentation. Phenotypic variability is considerable
                      even within the same family, including for monozygotic
                      twins. Mean age of onset is about 30 years. VPS13A disease
                      runs a chronic progressive course and may lead to major
                      disability within a few years. Some affected individuals are
                      bedridden or wheelchair dependent by the third decade. Age
                      at death ranges from 28 to 61 years; several instances of
                      sudden unexplained death or death during epileptic seizures
                      have been reported.Diagnosis/testing: The diagnosis of
                      VPS13A disease is established in a proband with suggestive
                      findings and biallelic pathogenic variants in VPS13A
                      identified by molecular genetic testing.Management:
                      Treatment of manifestations: There is no cure for VPS13A
                      disease. Supportive treatment to improve quality of life,
                      maximize function, and reduce complications is recommended.
                      This ideally involves multidisciplinary care by specialists
                      in relevant fields of neurology, psychiatry, physiatry,
                      physical therapy (PT), occupational therapy (OT),
                      speech-language therapy, feeding, neuropsychology, and
                      medical genetics. Pharmacotherapy for movement disorders may
                      include dopamine antagonists/depleters such as atypical
                      neuroleptics or tetrabenazine (or its derivatives) for limb
                      and trunk dystonia and orofaciolingual dystonia (which may
                      also benefit from botulinum toxin). Issues with mobility,
                      activities of daily living, and need for assistive devices
                      can be addressed by physiatry, PT, and OT. In persons with
                      dysphagia, feeding assistance can include speech therapy and
                      gastrostomy tube placement as needed to reduce weight loss
                      and/or risk of aspiration. For dysarthria or mutism, therapy
                      can include the use of technical means for augmentative and
                      alternative communication, such as speech-generating
                      devices. Seizure management can include use of phenytoin,
                      clobazam, valproate, and levetiracetam. For
                      psychiatric/behavioral issues, antidepressant or
                      antipsychotic medications are used per conventional
                      approaches.Surveillance: Regular monitoring of existing
                      manifestations, the individual's response to pharmacotherapy
                      and other supportive care, and the emergence of new
                      manifestations is recommended per the multidisciplinary
                      treating specialists.Agents/circumstances to avoid:
                      Seizure-provoking circumstances (e.g., sleep deprivation,
                      alcohol intake) and anticonvulsants that may worsen
                      involuntary movements (e.g., carbamazepine,
                      lamotrigine).Genetic counseling: VPS13A disease is inherited
                      in an autosomal recessive manner. If both parents are known
                      to be heterozygous for a VPS13A pathogenic variant, each sib
                      of an affected individual has at conception a $25\%$ chance
                      of being affected, a $50\%$ chance of being an asymptomatic
                      carrier, and a $25\%$ chance of being unaffected and not a
                      carrier. Once the VPS13A pathogenic variants have been
                      identified in an affected family member, carrier testing for
                      at-risk relatives, prenatal testing for a pregnancy at
                      increased risk, and preimplantation genetic testing are
                      possible.},
      cin          = {AG Hermann},
      cid          = {I:(DE-2719)1511100},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)7},
      pubmed       = {pmid:20301561},
      url          = {https://pub.dzne.de/record/281114},
}