Neurotransmitterite

Neurotransmitterite is a proposed neurological condition described in some theoretical discussions and limited case reports as a disorder characterized by dysregulation of central nervous system neurotransmitter systems. It is not currently recognized as a distinct clinical entity in major diagnostic manuals, and the available evidence consists mainly of small studies and anecdotal reports. The term is sometimes used to describe syndromes with varied neuropsychiatric and motor manifestations linked to abnormal neurotransmitter metabolism or signaling.

Pathophysiology is speculative and likely heterogeneous. Proposed mechanisms include autoimmune or inflammatory processes directed at enzymes involved in neurotransmitter synthesis, receptor dysfunction, or transporter abnormalities that alter neurotransmitter availability. Microglial activation and blood-brain barrier perturbations may contribute to imbalanced neurotransmission, producing a spectrum of clinical features. Because multiple neurotransmitter systems can be affected, presentations may resemble other neurodegenerative, mood, or movement disorders.

Clinical features are variable and may include subacute cognitive changes, mood disturbances such as anxiety or depression, executive dysfunction, sleep disruption, and movement abnormalities like tremor or stiffness. Seizures and autonomic symptoms have been reported in some cases. The heterogeneity of symptoms often makes diagnosis challenging and necessitates careful exclusion of other conditions.

Diagnosis relies on clinical assessment after ruling out alternative explanations and may incorporate laboratory and imaging studies. Some reports describe abnormalities in cerebrospinal fluid neurotransmitter metabolites or functional imaging, but there are no validated diagnostic criteria or biomarkers for a definitive diagnosis.

Treatment and prognosis are uncertain due to limited evidence. Management focuses on symptomatic relief and addressing suspected underlying inflammation or autoimmune processes when present. Immunotherapies have been tried in select cases, but their efficacy is not established. Further research is needed to define criteria, biomarkers, and effective therapies for neurotransmitterite.