neuroacanthocytosis/tremor

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Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis.

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Chorea-acanthocytosis (ChAc) is a neurodegenerative condition predominantly manifesting with chorea and often acanthocytes on peripheral blood film. Abnormal appearances with ¹²³I-FP-CIT single-photon emission computed tomography (SPECT) have not previously been reported in ChAc. We

Cognitive impairment in "Other" movement disorders: hidden defects and valuable clues.

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There is a group of less-common movement disorders in which a clear cognitive phenotype coexists alongside the motor abnormality, and the recognition of this co-occurrence is essential to diagnose these disorders in an early phase. Examples include chorea-acanthocytosis, Niemann-Pick type C, some

[Clinical diagnosis of movement disorders--evoked potentials].

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As a clinical diagnostic approach, the evoked potential has been used to differentiate movement disorders, especially myoclonic movements, Giant somatosensory evoked potentials (SEPs) and long-loop reflex to electrical stimulation of the peripheral nerve are commonly employed in the evaluation of

Diagnostic testing in movement disorders.

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The diagnosis of movement disorders is essentially clinical. Work-up depends on patient age, part of the body affected, drug response, and presence of other systemic or neurologic symptoms and signs. Typical Parkinson's disease, essential tremor, and tics need only minimal work-up if any. Brain

Deep brain stimulation for the treatment of hyperkinetic movement disorders.

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Deep brain stimulation effectiveness is well recognized for different movement disorders including Parkinson's disease, dystonia and essential tremor, however several other diseases in this field may benefit from the technique although experience is sparse and evidences of benefit and risks are not

Secondary tics and tourettism.

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Motor and phonic tics are most frequently due to Tourette syndrome, but there are many other causes of tics. We analyzed data on 155 patients with tics and co-existent disorders (101M/54F; mean age 40.5 +/- 20.2 years). Fourteen (9.0%) patients had tics associated with an insult to the basal

Recessive mutations in >VPS13D cause childhood onset movement disorders.

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VPS13 protein family members VPS13A through VPS13C have been associated with various recessive movement disorders. We describe the first disease association of rare recessive VPS13D variants including frameshift, missense, and partial duplication mutations with a novel complex, hyperkinetic

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