Besides CCAS, our SCA48 patients often showed movement disorders and other clinical manifestations previously described in SCAR16, linked to biallelic variants in the same gene, thus suggesting a continuous clinical spectrum and significant overlap amongst recessive and dominantly inherited mutations in STUB1.
In conclusion, diagnostic tests for celiac disease should be a part of etiological investigations in patients with otherwise unexplained movement disorders including PKND.
This physiological uptake, due to a pineal DOPA decarboxylase activity, has also been observed with this PET system in other patients with F-DOPA to explore movement disorders.
Additional screening of NAXE identified three novel homozygous missense variants (p.Lys245Gln, p.Asp218Asn, p.Ile214Val) in three patients with overlapping phenotype (fluctuating disease course, respiratory insufficiency, movement disorder).
A total of 283 consecutive PD outpatients with ≥5° forward trunk, lateral trunk or forward neck bending (FTB, LTB, FNB, respectively) were recruited from seven centers for movement disorders.
%DET increased and SampEn decreased with increasing Movement-Disorder-Society UPDRS scores, while theta band coherence was significantly correlated with total MDS-UPDRS scores and torque variance.
Known defects of folate transport are deficiency of the proton coupled folate transporter, associated with systemic as well as cerebral folate deficiency, and deficiency of the folate receptor alpha, leading to an isolated cerebral folate deficiency associated with intractable seizures, developmental delay and/or regression, progressive ataxia and choreoathetoid movement disorders.
Recently, mutations in four different genes (SLC20A2, PDGFRB, PDGFB, and XPR1) were identified, together with novel mutations in the Myogenic Regulating Glycosylase gene, causing the occurrence of movement disorders, cognitive decline, and psychiatric symptoms.
The abnormal phenotype of motor axons is also caused by one amino acid exchanges of DINE/ECEL1, which are responsible for distal arthrogryposis type 5 in a group of human congenital movement disorders.
%DET increased and SampEn decreased with increasing Movement-Disorder-Society UPDRS scores, while theta band coherence was significantly correlated with total MDS-UPDRS scores and torque variance.
We identified a novel de novo KCNT1 variant in a patient with early-infantile epileptic encephalopathy (EIEE) and status dystonicus, a life-threatening movement disorder.
Lastly, miR-let-7a overexpression via injection of miR-7 mimics into mouse striatum suppressed microglia activation and reduced pro-inflammatory cytokine production, which were accompanied by relieved movement disorder and improved spatial memory deficits in α-Syn-induced PD mice.
Patients referred to a movement disorders clinic in a tertiary care academic medical center completed validated voice and swallowing specific Quality of Life (QOL) questionnaires: Voice Handicap Index-10 (VHI-10) and Eating Assessment Tool-10 (EAT-10).
Anti-IgLON5 disease is a complex neurological illness which is characterized by progressive sleep and movement disorders and defined by specific autoantibodies to IgLON5.
%DET increased and SampEn decreased with increasing Movement-Disorder-Society UPDRS scores, while theta band coherence was significantly correlated with total MDS-UPDRS scores and torque variance.
The loss-of-function mutation in PARK7/DJ-1 is one of the most common causes of autosomal recessive Parkinson's disease, and patients carrying PARK7 mutations often exhibit both a progressive movement disorder and emotional impairment, such as anxiety.
%DET increased and SampEn decreased with increasing Movement-Disorder-Society UPDRS scores, while theta band coherence was significantly correlated with total MDS-UPDRS scores and torque variance.
The evidence that AMPA-induced intracellular Zn<sup>2+</sup> dysregulation causes movement disorder via nigrostriatal dopaminergic neurodegeneration suggests that AMPA receptors, probably Ca<sup>2+</sup>- and Zn<sup>2+</sup>-permeable GluR2-lacking AMPA receptors are potential targets for overcoming Parkinson's syndrome.