Page 48 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma
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Chapter 2
specific nutritional and/or pharmacological interventions with improvement
in parkinsonism.120 Other examples include disorders of lipid metabolism
(like cerebrotendinous xanthomatosis and X-linked adrenoleukodystrophy)
and 5,10-methylenetetrahydrofolate reductase deficiency.117 Discoveries
continue to be made regarding the development of treatment in inborn
errors of metabolism that may have been associated with parkinsonism,
making it an important and evolving group of disorders.
Management of parkinsonism requires a coordinated multidisciplinary
approach in view of the comorbidity in many GNDs, that may involve clinical
experts from many subspecialties in addition to the family doctor and
movement disorder specialist.
Parkinsonism has been reported in 69 different genetic
neurodevelopmental disorders (GNDs).
GNDs are genetically and clinically heterogeneous.
Patients with both a GND and parkinsonism is a growing
population due to improved detection and clinical care.
Identification of a genetic disorder is important for several
reasons, e.g.: end the ‘Diagnostic Odyssey’, counseling
of patients and their families, connect patients to patient
organizations for peer support, and to provide long-term
clinical/preventative care.
Many GNDs are multisystem diseases with neurological and
non-neurological manifestations.
Many GNDs that present with parkinsonism require coordinated
multidisciplinary care involving health care professionals from
several medical and non-medical disciplines.
Treatable inborn errors that present with neurodevelopmental
problems and parkinsonism are an evolving group of disorders.
Research in GNDs may help unravel the complex processes
underlying parkinsonism.
International research collaborations with detailed phenotype
analysis (‘deep phenotyping’) are needed to further our
knowledge, and to overcome the issue of the limited number
of patients with individually rare conditions.
Figure 3. Main messages
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