Low Vitamin D and Sleepiness/Muscle Pain

Osteomalacic myopathy (diffuse muscle pain) can interfere with sleep quality and contribute to daytime drowsiness. Patients found to have 25-OH vitamin D < 30 ng/mL were treated. 81 0f 153 patients responded positively to vitamin D3 replacement.
J Clin Sleep Med, 2010; 6 (6): 605-608
Med Hypotheses. 2011 ; 76 (2) :208-213

ALS/FTD Major New Gene Discovery

The gene , called chromosome 9 open reading frame 72 (C9ORF72), contributes to 40% of familial (inherited) and 7-10% of sporadic (non-inherited) ALS and is linked to a seemingly unrelated neurodegenerative disorder (but known to be associated with ALS) Frontotemporal Degeneration (dementia).The function of the gene is as yet unknown. This mutant gene causes a toxic build-up of RNA .

C9ORF72 can be traced back to a "founder"...one person in Scandinavia 1500 years ago! This discovery prompts investigators to question whether there is actually a "sporadic" form of ALS, given that careful investigation of such patients may in fact reveal a relative with FTD.
NEURON 2011; E-pub Sept 21 2011

Alzheimer's Plaque Origin : Amyloid plaques may originate in the liver, not the brain

Higher expression of presenilin 2in the liver correlated with greater accumulation of Beta-amyloid in the brain and the development of Alzheimer's disease suggesting that blocking amyloid production in the liver may protect the brain.

Journal of Neuroscience Research March 3 online

Recurrent Stroke Risk Cut With Statins Even in Those Without Diabetes

Statin therapy appears to reduce the risk of recurrent stroke among patients with diabetes or the metabolic syndrome to the same degree that it does in patients who have neither disorder, according to a planned post hoc analysis of data collected in the Stroke Prevention by Aggressive Reduction in Cholesterol Levels clinical trial (SPARCL).

Metabolic Dysfunction LInked to Cyclic Vomiting Syndrome

About a third of children with cyclic vomiting syndrome appear to have some metabolic condition, either mitochondrial dysfunction, fatty acid oxidation dysfunction, or a combination of both. According to Dr. David Rothner at the Cleveland Clinic in a largest-to-date case series of metabolic testing in patients with CVS presented at the American Headache society meeting in Washington.

That Itches

It is reported that 17 % of adults suffer from chronic itch. Zhou-Feng Chen , of WUSOM , and his team have discovered an itch receptor called GRPR and itch specific neurons. Itch receptors are located not just in the skin but also in the brain and spinal cord.

How does this complex system work ? Stay tuned...

BROKEN DOWN RECYCLING SYSTEM

Feinberg School scientists found the cause of ALS by discovering a protein, ubiquilin2, whose critical job is to recycle damaged or misfolded proteins in motor and cortical neurons and shuttle them off to be reprocessed. In people with ALS, Feinberg researchers found ubiquilin2 isn’t doing its job. As a result, the damaged proteins and ubiquilin2 loiter and accumulate in the motor neurons in the spinal cord and cortical and hippocampal neurons in the brain. The protein accumulations resemble twisted skeins of yarn -- characteristic of ALS -- and cause the degeneration of the neurons. Researchers found ubiquilin2 in these skein-like accumulations in the spinal cords of ALS cases and in the brains of ALS/dementia cases.

http://alsn.mda.org/news/ubiquilin-2-abnormalities-connected-als