Diagnosing Brain Diseases by Measuring a Protein in Blood or Urine

This patent describes a method for diagnosing brain diseases like Alzheimer's and Creutzfeldt-Jakob disease by measuring the amount of a specific protein called beta-synuclein in non-spinal fluid samples such as blood or urine.

What it covers

This patent describes a way to diagnose diseases linked to brain cell connection breakdown, known as synaptic degeneration, by measuring the concentration of a protein called beta-synuclein in a patient's sample (Claim 1). Importantly, the method specifically covers samples that are not cerebrospinal fluid (CSF), preferring samples like blood, serum, urine, saliva, or plasma (Claims 2, 3). The method is performed outside the body, or 'ex vivo' (Claim 4). It can be used to diagnose or assess the status of conditions such as Alzheimer's disease, Creutzfeldt-Jakob disease, traumatic brain injury, or stroke (Claim 5). For example, a doctor could take a blood serum sample from a patient, use a technique like quantitative mass spectrometry or single-molecule arrays (Simoa) to measure beta-synuclein (Claims 7, 10), and then compare the level to a specific cut-off value, such as 10 pg/ml for Alzheimer's or 39.8 pg/ml for Creutzfeldt-Jakob disease, to help make a diagnosis (Claims 8, 9).

What it doesn't cover

• —Does not cover diagnostic methods that rely solely on cerebrospinal fluid (CSF) samples.
• —Does not cover diagnostic tests performed directly inside a living human or animal body.
• —Does not cover using other biomarkers besides beta-synuclein for diagnosing these specific diseases.
• —Does not cover methods of *treating* the diseases, only diagnosing, assessing, or monitoring their progression.

The clever bit

The novelty lies in identifying beta-synuclein as a specific biomarker for synaptic degeneration diseases and, crucially, demonstrating its utility in easily obtainable, non-cerebrospinal fluid samples like blood or urine. This moves away from more invasive diagnostic methods.

Why it matters

Diagnosing neurodegenerative diseases like Alzheimer's and Creutzfeldt-Jakob disease early and accurately is a major challenge. Current diagnostic methods often involve invasive procedures, such as spinal taps to collect cerebrospinal fluid. This patent offers a less invasive approach by using more accessible samples like blood, which could make early detection and monitoring easier for patients and doctors.

Real-world examples

• 1.Blood tests for early Alzheimer's detection
• 2.Diagnostic panels for neurodegenerative disorders
• 3.Research tools for monitoring disease progression in clinical trials