Diagnosis and treatment of diseases caused by misfolded proteins

A method of treating a neurodegenerative disease or a proteopathy, the method comprising administering to a subject in need thereof an effective amount of a composition comprising ANKRD16 protein or a nucleic acid encoding ANKRD16.

The method of claim 1, wherein the ANKRD16 protein is selected from SEQ ID Nos:

• 2, 4, 6, 8, 10, 12, 14 or 22.

The method of claim 1, wherein a neurodegenerative disease is selected from the group consisting of:

• Alexander disease, Alper's disease, Alzheimer's disease, Amyotrophic lateral sclerosis, Ataxia telangiectasia, Batten disease, Bovine spongiform encephalopathy (BSE), Canavan disease, Cockayne syndrome, Corticobasal degeneration, Creutzfeldt-Jakob disease, Huntington disease, HIV-associated dementia, Kennedy's disease, Krabbe disease, Lewy body dementia, Machado-Joseph disease, Multiple sclerosis, Multiple System Atrophy, Parkinson disease, Pelizaeus-Merzbacher Disease, Pick's disease, Primary lateral sclerosis, Prion diseases, Refsum's disease, Sandhoff disease, Schilder's disease, Schizophrenia, Spielmeyer-Vogt-Sjogren-Batten disease, Spinocerebellar ataxia, Spinal muscular atrophy, Steele-Richardson-Olszewski disease, and Tabes dorsalis.

The method of claim 1, wherein the proteopathy is selected from the group consisting of:

• infertility, reduced fertility, cancer, Hereditary lattice corneal dystrophy, cataracts, myopathy, amyloidosis, diabetes, medullary thyroid carcinoma, Pituitary prolactinoma, and Pulmonary alveolar proteinosis.

The method of claim 1, wherein the said composition is administered systemically or locally.

The method of claim 1, wherein said subject is a human.

The method of claim 1, wherein said composition promotes neuronal cell survival.

The method of claim 1, wherein said composition is formulated with a pharmaceutically acceptable carrier.

The method of claim 1, further comprising at least one additional therapeutic for a neurodegenerative disease or a proteopathy.

A method of detecting whether a subject has or is at risk of developing a neurodegenerative disease or a proteopathy, comprising:

• (a) contacting a sample obtained from said subject with at least one probe that binds at least one ANKRD16 isoform;
• and
• (b) assessing the presence of full-length and short ANKRD16 isoforms, wherein the presence of higher amounts of short ANKRD16 isoforms compared to the full-length ANKRD16 isoform is indicative that the subject has or is at risk of developing a neurodegenerative disease or a proteopathy.

A kit for diagnosis or prognosis of a neurodegenerative disease or a proteopathy comprising at least one probe that binds at least one ANKRD16 isoform, a detectable label, and instructions for using the kit, wherein said probe is selected from the group consisting of an antibody or antigen binding fragment thereof or a nucleic acid.

A device for detecting whether a subject has or is at risk of developing a neurodegenerative disease or proteopathy comprising a solid matrix and an ANKRD16 probe deposited on said solid support matrix, wherein said probe facilitates the measurement of the level of ANKRD16 in a test sample.