Disclosed herein are compounds, compositions and methods for modulating splicing of SMN2 mRNA in a subject. Also provided are uses of disclosed compounds and compositions in the manufacture of a medicament for treatment of diseases and disorders, including spinal muscular atrophy. Also provided are kits for detecting the amount of SMN protein in a sample of cerebrospinal fluid.

Methods for treatment and diagnosis of neurological disorders such as autism and autism spectrum disorder are disclosed. Also disclosed are modulators of alternative splicing regulators SRRM4 and/or SRRM3 for treating neurological disorders. Further disclosed are agents that modulate the expression of at least one splice variant for treating neurological disorders. Mouse models of neurological disorders having increased or decreased expression of SRRM4 and/or SRRM3 are also disclosed.

A measurement device for measuring the circumference of a human head. The measurement device includes a generally circumferential body that fits around a human head. The generally circumferential body has a receiver segment with an elongated geometry. The receiver segment includes an adjustment end receiver. The receiver segment is flexible. The generally circumferential body also has an adjustment segment with a measurement end. The adjustment segment measurement end has a diameter that is narrower than the receiver segment adjustment end receiver diameter. The adjustment segment has a measurement indicator that extends from the measurement end. The adjustment segment is flexible. The adjustment segment measurement end is adjustably inserted into the receiver segment sliding end receiver. The visual measurement indicator is operable with respect to the receiver segment adjustment end receiver.

Compositions for altering splicing activity of the DcpS gene and increasing SMN protein expression in target cells are provided. Also disclosed are methods of use of such compositions for the treatment of SMA.

Provided herein are methods and compositions for the treatment of ALS using chlorite or a pharmaceutical composition comprising sodium chlorite, for a target ALS patient population. Also provided herein are methods for identifying a target ALS patient population likely to be responsive to treatment with chlorite or a pharmaceutical composition comprising sodium chlorite, the methods including identifying ALS patients with elevated plasma C-reactive protein (CRP) levels and/or patients age 40-65, sporadic ALS pathology, or combinations thereof.

The present subject matter relates to a non-invasive optical imaging method for monitoring early pathological events specific to Alzheimer's disease (AD), such as the development, amount and location of amyloid plaques. The ability to monitor such events provides a basis for, among other things, AD diagnosis, prognosis and assessment of potential therapies. In addition, the present subject matter introduces novel methods for treating AD and retinal ailments associated with AD. Aβ-plaque detection in living brains is extremely limited, especially at high resolution; therefore the present invention is based on studies focusing on the eyes as an alternative to brain-derived tissue that can be imaged directly, repetitively and non-invasively.

The present invention relates to conjugates of cyclosporin with quinolium mitochondrial targeting groups, and their therapeutic uses.

The present application in one aspect provides methods and compositions that are fine-tuned to modulate brain and peripheral serotonin levels, which in turn would lead to prevention and treatment of various diseases associated with a reduced level of brain serotonin. In another aspect, there are provided methods of assessing the peripheral or placenta level of serotonin and associated risks based on the peripheral placental level of TPH1.

The present disclosure provides a method of detecting the presence or amount of a UBE3A protein in a sample, such as a human sample, using mass spectrometry based techniques. The methods described herein are useful for diagnosing Angelman syndrome, as well as monitoring disease progression and treatment effectiveness.

In certain embodiments, the invention stems from the discovery that analysis of population distribution curves of metabolite levels in blood can be used to facilitate predicting risk of autism spectrum disorder (ASD) and/or to differentiate between ASD and non-ASD developmental delay (DD) in a subject. In certain aspects, information from assessment of the presence, absence, and/or direction (upper or lower) of a tail effect in a metabolite distribution curve is utilized to predict risk of ASD and/or to differentiate between ASD and DD.