Dopa-responsive dystonia (DRD) encompasses a group of clinically and genetically
heterogeneous disorders that typically manifest as limb-onset, diurnally fluctuating dystonia …

Juvenile parkinsonism is arbitrarily defined as parkinsonian symptoms and signs presenting
prior to 21 years of age. Levodopa-responsive juvenile parkinsonism that is consistent with …

Movement Disorders in Childhood, Second Edition, provides the most up-to-date information
on the diseases and disorders that affect motor control, an important area of specialization …

Hereditary spastic paraplegia (HSP) is a heterogeneous group of rare motor neuron
disorders characterized by progressive weakness and spasticity of the lower limbs. HSP …

The links between the two archetypical basal ganglia disorders, dystonia and parkinsonism,
are manifold and stem from clinical observations, imaging studies, animal models and …

Hereditary spastic paraplegias (HSPs) are a group of rare, inherited, neurological diseases
characterized by broad clinical and genetic heterogeneity. Lower-limb spasticity with first …

Background Hereditary spastic paraplegia (HSP) is a rare genetic disorder associated with
mutations in> 80 loci designated SPG (SPastic parapleGia). The phenotypic spectrum of …

We have previously demonstrated that neuroinflammation by the adaptive immune system
acts as a robust and targetable disease amplifier in a mouse model of Spastic Paraplegia …

Dopa-responsive dystonia (DRD) and DRD plus are diseases of the dopamine pathway with
sizeable genetic diversity and myriad presentations. DRD has onset in childhood or …

GCH1 mutations have been associated with dopa‐responsive dystonia (DRD), Parkinson's
disease (PD) and tetrahydrobiopterin (BH4)‐deficient hyperphenylalaninemia B. Recently …