Hereditory Cerebellar Degeneration

    
      Re: Hereditory Cerebellar Degeneration
    


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Posted by CCF neurology MD on June 15, 1997 at 14:14:13:

In Reply to: Re: Hereditory Cerebellar Degeneration posted by Andrew Blidy on June 15, 1997 at 08:33:01:

: :  I have a brother-in-law, 39 year old male that has been diagnosis with a Hereditory Familial Cerebellar Degeneration. The family has a history of neurologic disease. My mother-in-law( his mother), her sister and grandfather had neurlogic disorders.  I have seen the cat scans and they reveal mass degeneration of the brain stem.  My questions are : What is  the  treatment/ medication for this condition?   How rare is this diagnosis ?
  :  Dear Andrew, The degenative cerebellar disorders are a complex group of diseases, most of which are genetically determined.In some, there is an underlying metabolic diorder. Unfortunately, degenerative ataxias of unknown cause are much more common. They are divided into autosomal recessive and autosomal dominant diorders. Most of autosomal recessive ones are early onset, before age of 20; most of dominant ones are late onset, after age 20.
These are very rare conditions. The autosomal recessive ones, represented by Fredrich ataxia, have a prevalence of 1 to 2 per 100,000.  A number of attempts at treating these conditions have been made.  The results have been variable and largely disappointing. For Frederich ataxia, suggestions that physostigmine, GABA,and TRH may be helpful have not been confirmed.  For autosomal dominant ataxias, the therapeutic trials with GABA-agonist drugs
such as baclofen and sodium valproate have been disappointing and the same is true of those with cholinergic drugs.