We report a patient with paradoxical vocal fold motion (PVFM) due to pantothenate kinase-associated neurodegeneration, a rare neurodegenerative disease and a subclass of neurodegeneration with brain iron accumulation disorders. PVFM is marked by normal vocal fold anatomy and physiology with intermittent adduction during the respiratory cycle. Many etiologies have been reported and include laryn...

The sleep disorder narcolepsy results from loss of hypothalamic orexin/hypocretin neurons. Although narcolepsy onset is usually postpubertal, current mouse models involve loss of either orexin peptides or orexin neurons from birth. To create a model of orexin/hypocretin deficiency with closer fidelity to human narcolepsy, diphtheria toxin A (DTA) was expressed in orexin neurons under control of...

Alzheimer's disease (AD, OMIM: 104300), a progressive neurodegenerative disorder with no cure to date, is caused by the generation of amyloid-beta-42 (Aβ42) aggregates that trigger neuronal cell death by unknown mechanism(s). We have developed a transgenic Drosophila eye model where misexpression of human Aβ42 results in AD-like neuropathology in the neural retina. We have identified an apical-...

In this issue, Oiso et al. [1] present an unusual case of pigmentary mosaicism. A 29-year-old man with mental deficiency had hypermelanotic macules arranged in a phylloid pattern. Cytogenetic analysis of peripheral blood lymphocytes showed 3 different aberrant cell types containing either a monocentric or a dicentric ring chromosome 13, or monosomy 13. Remarkably, no normal karyotype could be f...

OBJECTIVE Multiple sclerosis (MS) is a chronic disease of the central nervous system (CNS) characterized by coexisting processes of inflammation, demyelination, axonal neurodegeneration and gliosis. Autoimmune processes play a pivotal role in the disease. The immune system may be modulated by neurotrophins and neurotrophin factors. Aim of the study was to assess plasma levels of brain-derived n...

Deferiprone was shown to reverse iron deposition in Friedreich's ataxia. This multi-center, unblinded, single-arm pilot study evaluated safety and efficacy of deferiprone for reducing cerebral iron accumulation in neurodegeneration with brain iron accumulation. Four patients with genetically-confirmed pantothenate kinase-associated neurodegeneration, and 2 with parkinsonism and focal dystonia, ...

Glaucoma is now regarded as a neurodegenerative disorder. A number of theories including the mechanical and vascular models have been used to explain the pathogenesis of glaucoma. However, there is now increasing evidence of biochemical molecules which may play a part in it's causation. These biochemical mechanisms include the role of excitatory aminoacids, caspases, protein kinases, oxygen fre...

Organophosphate-induced delayed neuropathy (OPIDN) is a Wallerian-type axonopathy that occurs weeks after exposure to certain organophosphates (OPs). OPs have been shown to bind to Neuropathy Target Esterase (NTE), thereby inhibiting its enzymatic activity. However, only OPs that also induce the so-called aging reaction cause OPIDN. This reaction results in the release and possible transfer of ...

Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...

Robert L. McNamara, MD, MHS;* Erica S. Spatz, MD, MHS;* Thomas A. Kelley, MD, MBA; Caleb J. Stowell, MD; John Beltrame, MD, PhD; Paul Heidenreich, MD, MS; Ricard Tresserras, MD, PhD, MPH; Tomas Jernberg, MD, PhD; Terrance Chua, MD; Louise Morgan, MSN; Bishnu Panigrahi, MD; Alba Rosas Ruiz, PhB, MPharm; John S. Rumsfeld, MD, PhD; Lawrence Sadwin, BS; Mark Schoeberl, MPA; David Shahian, MD; Clive...