Research & Publications

Autism: A Mitochondrial Disorder?

Med Hypotheses

1998 Jun;50(6):497-500.

Autism: a mitochondrial disorder?

J Lombard 1


Autism is a developmental disorder characterized by disturbance in language, perception and socialization. A variety of biochemical, anatomical and neuroradiographical studies imply a disturbance of brain energy metabolism in autistic patients. The underlying etiology of a disturbed bioenergetic metabolism in autism is unknown. A likely etiological possibility may involve mitochondrial dysfunction with concomitant defects in neuronal oxidative phosphorylation within the central nervous system. This hypothesis is supported by a frequent association of lactic acidosis and carnitine deficiency in autistic patients. Mitochondria are vulnerable to a wide array of endogenous and exogenous factors which appear to be linked by excessive nitric oxide production. Strategies to augment mitochondrial function, either by decreasing production of endogenous toxic metabolites, reducing nitric oxide production, or stimulating mitochondrial enzyme activity may be beneficial in the treatment of autism.

Pathophysiology of Alzheimer's disease

Neuroimaging Clin N Am

2005 Nov;15(4):727-53, ix.

Pathophysiology of Alzheimer's disease

Bruno P Imbimbo 1Jay LombardNunzio Pomara

Tremendous progress has been made in understanding the processes of the Alzheimer's disease (AD) cascade, laying the groundwork for improvements in diagnosis and treatment. Advancement has been made in understanding the genetic basis of AD, with identification of causative genes for early-onset familial AD, and the role of the polymorphism of the APOE gene in the late-onset form of the disease. Understanding cerebral degeneration and accumulation of beta-amyloid has generated hopes for discovery of disease-modifying treatments. Progress is needed in understanding the mechanisms that link beta-amyloid accumulation and neuronal death. The next 5 years will be crucial in this respect

Brain injury due to ventricular shunt placement delineated by diffusion tensor imaging (DTI) tractography


2008 Jul;14(4):252-4.


Brain injury due to ventricular shunt placement delineated by diffusion tensor imaging (DTI) tractography

Menachem M Gold 1Keivan ShiftehStella ValdbergJay LombardMichael L Lipton

We report a patient who presented at age 14 years for evaluation of a severe behavioral disorder. The patient had sustained direct injury to the corticospinal tract and limbic system during revision of a ventriculoperitoneal shunt at the age of 9 years.

Results: Despite persistent evidence of severe disruption of the corticospinal tract on diffusion tensor imaging at age 14 years, the patient had regained complete motor function.

Conclusion: Recovery of motor function after serious injury to motor cortex during childhood is a dramatic example of the plasticity of the child's brain to injury. In addition, we suggest that the behavioral disorder that emerged in this patient may be related to limbic system injury suffered during the shunt revision.

The potential utility of pharmacogenetic testing in psychiatry

Psychiatry J


The potential utility of pharmacogenetic testing in psychiatry

Kathryn R Gardner 1Francis X Brennan 1Rachel Scott 1Jay Lombard 1

Over the last decade, pharmacogenetics has become increasingly significant to clinical practice. Psychiatric patients, in particular, may benefit from pharmacogenetic testing as many of the psychotropic medications prescribed in practice lead to varied response rates and a wide range of side effects. The use of pharmacogenetic testing can help tailor psychotropic treatment and inform personalized treatment plans with the highest likelihood of success. Recently, many studies have been published demonstrating improved patient outcomes and decreased healthcare costs for psychiatric patients who utilize genetic testing. This review will describe evidence supporting the clinical utility of genetic testing in psychiatry, present several case studies to demonstrate use in everyday practice, and explore current patient and clinician opinions of genetic testing.

What is the role of pharmacogenetics in clinical psychiatry?

Expert Opin Drug Metab Toxicol

2013 Jan;9(1):1-4.

What is the role of pharmacogenetics in clinical psychiatry?

Jay LombardP Murali Doraiswamy

Pharmacogenetic-guided psychiatric intervention associated with increased adherence and cost savings

Am J Manag Care

2014 May;20(5):e146-56.

Pharmacogenetic-guided psychiatric intervention associated with increased adherence and cost savings

Jesen FagernessEileen FonsecaGregory P HessRachel ScottKathryn R GardnerMichael KofflerMaurizio FavaRoy H PerlisFrancis X BrennanJay Lombard

Exploring the Brain-Mind-Body Connection

Altern Ther Health Med

Sep-Oct 2007;13(5):66-76.

Jay Lombard, DO: exploring the brain-mind-body connection. Interview by Frank Lampe and Suzanne Snyder

Jay Lombard


Treatment of Kleine-Levin Syndrome With Intranasal Photobiomodulation and Methylene Blue

Michael Hamper , Paolo Cassano , Jay Lombard

2021 Hamper et al. Cureus 13(10): e18596. DOI 10.7759/cureus.18596

1. Neurology, Charles E. Schmidt College of Medicine, Florida Atlantic University, Boca Raton, USA 2. Psychiatry,
Massachusetts General Hospital, Boston, USA 3. Neurosciences, Root Cause Medicine Practice, Tarrytown, USA
Corresponding author: Michael Hamper,


Kleine-Levin syndrome (KLS) is a rare neuropsychiatric disorder, characterized by recurrent episodes of
idiopathic hypersomnia, and cognitive and behavioral abnormalities, such as memory loss and child-like
language. There is no definitive etiology for KLS; however, there are hypotheses of genetic predisposition,
autoimmune mechanisms, and abnormal thalamic and hypothalamic functioning. Similarly, there is no
definitive treatment for KLS as one method may be beneficial for one patient and not for another. We
present a case of KLS in a patient who has no clinical improvement in symptoms with a variety of
treatments. The parents of the patient agreed to attempt a trial of intranasal photobiomodulation (i-PBM)
with red light, in combination with methylene blue (MB). The patient showed remission of the KLS episode
following treatment with no further KLS episodes reported after treatment.

Categories: Neurology, Pediatrics, Psychiatry

Keywords: i-pbm, methylene blue, red light, intranasal photobiomodulation, kleine-levin syndrome