Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Troyer syndrome is a complex hereditary spastic paraplegia.
Troyer syndrome is caused by a mutation in the SPART gene. The SPART gene provides instructions for producing a protein called spartin, whose function is not entirely understood. Researchers believe that spartin may be involved in a variety of cell functions, from breaking down proteins to transporting materials from the cell surface into the cell (endocytosis). Spartin is found in a wide range of body tissues, including the nervous system.
About 20 cases of Troyer syndrome have been reported in the Old Order Amish population of Ohio. It has not been found outside this population.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Malgorzata Milewska practices in Dublin, Ireland. Milewska is rated as a Distinguished expert by MediFind in the treatment of Troyer Syndrome. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are Troyer Syndrome, Hereditary Neuroblastoma, Hereditary Spastic Paraparesis, and Spasticity.
Keith Mckee is a Physiatrist and a Neurologist in Cleveland, Ohio. Mckee has been practicing medicine for over 22 years and is rated as a Distinguished expert by MediFind in the treatment of Troyer Syndrome. He is also highly rated in 33 other conditions, according to our data. His top areas of expertise are Hereditary Spastic Paraparesis, L1 Syndrome, Troyer Syndrome, and Spastic Paraplegia Type 7. He is licensed to treat patients in Ohio. Mckee is currently accepting new patients.
Yasushi Kisanuki is a Neurologist in Columbus, Ohio. Kisanuki has been practicing medicine for over 29 years and is rated as a Distinguished expert by MediFind in the treatment of Troyer Syndrome. He is also highly rated in 41 other conditions, according to our data. His top areas of expertise are Hereditary Ataxia, Spastic Paraplegia Type 3A, Hereditary Spastic Paraparesis, and Spastic Paraplegia Type 7. He is licensed to treat patients in Ohio. Kisanuki is currently accepting new patients.
Published Date: January 01, 2008Published By: National Institutes of Health
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