The UF Movement Disorders Center is excited to welcome, belated though it may be, Tetsuo Ashizawa, MD and S.H. Subramony, MD to the Movement Disorders team. They bring an expertise in ataxia and in Huntington’s disease to the table and are holding special clinics for these disorders. In addition to their work with the Movement Disorders Center, Dr. Ashizawa chairs the Department of Neurology while Dr. Subramony directs the Neuromuscular division.
If you have either ataxia or Huntington’s and would like an appointment or if you would like to refer a patient with these disorders please feel free to contact us via our web form or by phone (352-273-5550).
A team from the University of Florida and the University of Freiburg in Germany collaborated for this case report:
Int J Neurosci. 2009;119(11):2118-23.
Tracing the origin of L-2-hydroxyglutaric aciduria in a family.
Sass JO, Romrell JS, Vinson SY, Fernandez HH, Fischer J, Rodriguez RL, Okun MS.
Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany.
We describe late diagnosis of an adult with L-2-hydroxyglutaric aciduria (MIM 236792) on the basis of characteristic metabolite data and mutation analysis in the L2HGDH gene. The patient lacked MRI abnormalities which have been purported to be constant or typical findings in this disease. We further report the genetic status of his parents and his one living sibling. Our observations underline the clinical heterogeneity of the syndrome of L-2-hydroxyglutaric aciduria. This report emphasizes the diagnostic benefit of the assessment of urinary organic acids not only in children, but also in adult patients with unexplained neurological symptoms. The patient was determined to be compound heterozygous for two novel missense mutations in exon 4 of the gene (c.418G>C, c.446T>G), resulting in amino acid exchanges from alanine to proline (p.Ala140Pro) and leucine to arginine (p.Leu149Arg), respectively. The mother of our patient was heterozygous for Ala140Pro, and the father heterozygous for Leu149Arg only. Mutation analysis of a healthy 49-year-old third son of the non-consanguineous parents revealed a normal exon 4.
PubMed Link
On Friday Night Oct 30, 2009 Charlie and Michael Sperrazza presented the UF Movement Disorders Center with a $5000 dollar check to support research. The Eagles have been amazingly loyal supporters of the MDC and their contributions over the years have helped keep the creative research spirit alive and prospering. This year the Eagles received $4000 from the central Eagles office to match their $1000 contribution. We can’t thank them enough for all their support (over many years) of the UF MDC! Go Gators!
Answer: Because the UFMDC has one of the largest interdisciplinary teams
in the world dedicated to making sure your deep brain stimulation device
is placed correctly.
You will see a fellowship trained movement disorders neurologist, a
fellowship trained movement disorders neurosurgeon, and you will receive
the best possible medical optimization. Additionally, you will have access
to a complete interdisciplinary team of experts in every area (speech,
voice, walking, balance, memory, depression/anxiety disorders, rehabilitation,
driving, occupational therapy, etc.) who specialize in the care of Parkinson's
and Movement Disorder Patients.
We will ensure you are the right candidate,
and discuss with you in detail what symptoms we think you can expect
to improve with a deep brain stimulation surgical therapy. Your case
will be discussed in detail with the interdisciplinary team prior to
any surgical intervention. In addition we will provide a top-notch operating
room experience with a neurologist, microelectrode multiple pass mapping,
and careful imaging and guidance for the proper placement of your device.
After it is implanted you will have full access to a dedicated staff
for programming and followup of your medication and DBS needs. Should
you have any problems we are always available to help you.