SPF - Research

The Spastic Paraplegia Foundation is dedicated to advancing research and ultimately finding the cures for two closely related groups of neurodegenerative disorders termed Hereditary Spastic Paraplegia and Primary Lateral Sclerosis. These conditions share the common pathologic feature of degeneration principally of the upper motor neurons.

The impetus for forming the Foundation was inspired by the accelerating pace of research on these conditions. Dramatic breakthroughs have been made in the past decade, catapulting these conditions from being poorly understood to being on the threshold of significant treatment and cures.

Scientists have unraveled many of the riddles regarding the complicated biochemistry of these diseases. Many HSP genes have now been discovered as well as a gene for PLS. Animal models for these disorders are underway. These will enable investigators to uncover the biochemical processes that cause nerve degeneration and identify and test therapy targets. Please visit Publications to review recent HSP and PLS research studies.

An increased focus on our diseases is timely and critical. There is indeed reason to hope for treatments and therapies in coming years that will restore significant function to people affected by SPF diseases. And, uncovering more of these riddles may also lead to important findings for related conditions such as ALS, spinal cord injury and Alzheimer's Disease. Researchers say common threads link the many neurologic conditions that affect millions of people.

Fostering communication and collaboration between researchers, improving their access to data and providing direction to their efforts will accelerate the pace towards finding the cures for many diseases. The SPF will support new initiatives, take smart risks and make sure research dollars are spent wisely.

The Spastic Paraplegia Foundation is a volunteer managed and driven, publicly supported organization. Make a contribution to research or discuss ways your company can become a partner.

HSP Genetic Study

This information was provided by Fiorella, Clinical Project manager for genetic studies on HSP/FSP at the University of Miami. There is a HSP genetic study currently underway. If you are interested in participating or finding out more information, please contact Fiorella at mihgHSP@med.miami.edu .

The Miami Institute for Human Genomics Genetic is looking for INDIVIDUALS and their FAMILIES who would like to participate in Hereditary Spastic Paraplegia (HSP) research. The purpose of the research study is to identify genetic factors that contribute to Hereditary Spastic Paraplegia (HSP). Any individual with a Hereditary or Familial Spastic Paraplegia (HSP/FSP) diagnosis and, if willing, selected family members of the individual; can participate. Participation is free of charge. Travel to the University of Miami is not required. Trained staff from our team will perform a family and medical history interview, focused neurological exam, review of your medical records related to HSP, and a small blood sample (about 2 tablespoons). We maintain the highest standards of confidentiality for all families. If you are interested in participating, please contact the HSP study coordinators at 1-877-6UM-MIHG (877-686-6444) (toll free). You may also email us at mihgHSP@med.miami.edu .Please visit our web site at www.mihg.org for more information.

PDA Clinical Trial

Pseudobulbar affect (PBA) impacts more than 1 million people in the United States diagnosed with neurologic disease or brain injury, such as multiple sclerosis (MS), amyotrophic lateral sclerosis also known as Lou Gehrig's disease (ALS), Parkinson's disease, dementias including Alzheimer's disease, stroke, and traumatic brain injury.

If you or someone you know experiences episodes of uncontrollable laughing and/or crying, you may be eligible to participate in a clinical study now underway to find a treatment for pseudobulbar affect (PBA). Click here if you are interested or would like more information.

PLS and HSP genes discovered thus far:

PLS genes:

ALSin (also see ALSin HSP gene below)

HSP genes (32 genetic types have been defined with 14 genes discovered to date)

ALSin allelic with ALS2 and Juvenile PLS
Seipin BSCL2 gene (SPG17) (Dominant)
Maspardin (SPG21) (Recessive)
NIPA1 (SPG6) (Dominant)
Spastin (SPG4) (Dominant, most common)
Atlasin (SPG3A) (Dominant, childhood onset)
Kinesin heavy chain (SPG10) (Dominant)
HSP60/chaperonin (SPG13) (Dominant)
Spartin (SPG20) (Recessive, Troyer's Syndrome)
Paraplegin (SPG7) (Recessive)
L1 cell adhesion molecule (SPG1) (X-linked)
Proteolipid protein (SPG2) (X-linked)
REEP1 (SPG31) (Dominant)
ZFYVE27 (SPG33) (Dominant)
Neuropathy target esterase (Recessive)

Article by John K. Fink, M.D.: The Hereditary Spastic Paraplegias - Nine Genes and Counting

(five more genes have been discovered since that article was published)