Quality care assessment of Parkinson's disease at a tertiary medical center.

The purpose of this study was to determine the level of care of Parkinson's disease patients based on the 10 American Academy of Neurology quality measures. We reviewed 1,367 charts and final analysis was completed on 123 subjects. A total of 1,461 outpatient neurology visits from 33 neurologists were reviewed and 544 were included in the final analysis. Out of all 10 quality measures (13 individual questions addressed), "annual review of Parkinson's medications" was the most frequently documented (97.2%) and "annual review of safety issues appropriate to the patient's stage of disease" was the least frequently documented item (7.2%). Movement disorders specialists recorded significantly more items than other neurologists (4.7 ± 2.86 vs 3.3 ± 1.97, p = .0437); the provider with the highest number of items addressed was a movement disorders nurse practitioner (8.22 out of 13). None of the patient characteristics influenced the rates of documentation of the 10 quality measures. The wide variation of documentation rates could be addressed by comprehensive standardized templates to be reviewed and updated at each visit.

Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature.

A 5-year-old boy presented with mild autism and attention-deficit hyperactivity disorder (ADHD). Chromosomal microarray demonstrated a 1.7 Mb deletion at Xp22.31, which was consistent with X-linked ichthyosis (XLI). Further exam revealed dry, scaly skin on his abdomen and pretibial areas. Patients with mutations involving solely the STS gene or the recurrent ~2 Mb deletion may present with ADHD, whereas those with larger deletions including the NLGN4 gene can present with both ADHD and autism. However, our patient presented with mild autism in addition to ADHD despite having only the recurrent deletion without loss of NLGN4. Such neurological manifestations of XLI warrant attention as practical targets of clinical management.

Axon mediated interneuron migration.

Mammalian forebrain development requires extensive cell migration for cells to reach their appropriate location in the adult brain. Defects in this migration result in human malformations and neurologic deficits. Thus, understanding the mechanisms underlying normal cell migration during development is essential to understanding the pathogenesis of human malformations. Radial glia are known to support radial cell migration, while axons have been proposed as substrate for some non-radially migrating cells. Herein we have directly tested the hypothesis that axons can support non-radial cell migration. One population of cells known to migrate non-radially is the inhibitory interneurons that move from the ganglionic eminence to the cerebral cortex. We first show that early born GABAergic cells colocalize with TAG-1-positive (TAG-1+) axons, while later born cells colocalize with intermediate weight neurofilament-positive, TAG-1-negative (TAG-1-) processes, suggesting temporal differences in substrate specificities. We next developed an in vitro assay that allows us to observe cell migration on axons in culture. Using this assay we find that early born medial ganglionic eminence-derived interneurons migrate preferentially on TAG-1+ axons, while later born cells only migrate on neurofilament-positive/TAG-1- processes. These data provide the first direct evidence that ganglionic eminence cells migrate on axons and that there is an age-dependent substrate preference. Furthermore, the assay developed and characterized herein provides a robust method to further study the molecular substrates and guidance cues of axonophilic cell migration in neural development.

Nasalance scores for normal Korean-speaking adults and children.

There are numerous nasometric studies to date, including normative nasalance scores for various languages as well as nasometric differences in age, gender, race and region except the Korean language. In this regard, we sought to establish normative nasalance scores for Koreans. We created speech samples based on the everyday use of phonemes in the Korean language which were syntactically simple for children. In addition, we analysed nasometric features based on age and gender and confirmed test-retest reliability. The study included 108 children (54 girls and 54 boys, aged 7-11 years) and 108 adults (54 women and 54 men, aged 18-29 years) with normal articulation, resonance, voice and hearing. Nasometer II 6400 was used to measure the nasalance scores. The subjects read or repeated three speech stimuli, each consisting of 33, 36 and 24 syllables: (1) an oral passage devoid of nasal consonants, (2) an oro-nasal passage and (3) nasal sentences. For each stimulus, mean nasalance scores were obtained and gender or age dependence was analysed, using two-way analyses of variance. The mean nasalance scores for the oral passage, oro-nasal passage and nasal sentences were 11.69% (standard deviation (SD) 3.68), 34.04% (SD 4.88) and 63.72% (SD 6.07), respectively. Female speakers exhibited significantly higher nasalance scores than male speakers on the oro-nasal passage (p = 0.000) and nasal sentences (p = 0.004). Children exhibited significantly higher nasalance scores than adults on nasal sentences (p = 0.000). The nasalance scores in children and females were a little higher. Korean normative data will provide reference information in the evaluation and treatment of resonance problems.

Pregabalin resolves refractory aparathyroid paroxysmal kinesigenic choreoathetosis.

OBJECTIVE: The objective of this study was to determine the potential efficacy of pregabalin as treatment for aparathyroid paroxysmal kinesigenic choreoathetosis. METHOD: This was a case report. RESULTS: A 54-year-old white woman presented with a 20-year history of choreoathetoid and ballistic movements, which had developed as the result of parathyroidectomy. On examination, she demonstrated classic choreoathetoid movements with gait ataxia. Cognition was normal. Parathyroid hormone levels were near-absent with the rest of her workup being normal. Pregabalin 100 mg 3 times daily decreased her movements based on the Unified Huntington's Disease Rating Scale from 46 to 0. CONCLUSIONS: It is unclear how pregabalin, which acts on the calcium channel α(2) δ-1 subunit, can help aparathyroid paroxysmal kinesigenic choreoathetosis. Further studies are required to see if pregabalin normalizes calcium metabolism in the basal ganglia.

Spinal cord metastasis of a non-neurofibromatosis type-1 malignant peripheral nerve sheath tumor: an unusual manifestation of a rare tumor.

Malignant peripheral nerve sheath tumors are rare spindle-cell sarcomas derived from Schwann cells or pluripotent cells of the neural crest. They arise from the spinal roots, peripheral nerves, brachial and lumbosacral plexi, cranial nerves and terminal nerve fibers within soft tissue, intestine, lung and bone. These tumors recur either locally, or metastasize distally. Most of these tumors occur in association with neurofibromatosis type 1. Spinal cord metastasis from malignant nerve sheath tumors associated with neurofibromatosis type 1 is very rare. We describe a rare case of near-total spinal cord metastasis in a patient with malignant nerve sheath tumor in the absence of neurofibromatosis, and highlight the microscopic findings and natural history of this disease process.