Coexisting huntingtin and SCA8 repeat expansion: case report of a severe complex neurodegenerative syndrome.
We report the case of a 29 year old woman with a complex movement disorder syndrome due to the combination of coexisting pathological triplet repeat expansions of huntingtin and ATXN8 genes. The disease course was characterized by mental disturbances including cognitive decline and changes in personality starting at the age of 12 years, followed by twisting motions, intentional tremor and gait ataxia. Later Parkinsonian symptoms of micrographia, bradykinesia, muscle rigidity and mental decline became dominant. Brain MRI showed hypoplasia of the nucleus caudatus and generalized atrophy; MR spectroscopy revealed a decrease of all typical metabolites except for an increased level of lactate and acetate. Therapeutic trials with pramipexole, ropinirole and tetrabenazine showed no benefit, while levetiracetam caused agitation and hallucinations. We discuss phenotype-genotype correlation and the rule of triplet repeat expansions of gene ATXN8.
Bereznai
Benjamin
B
Clinical and Research Center of Molecular Neurology, Semmelweis University, Budapest, Hungary. bereznaib@neur.sote.hu
Lovas
Gábor
G
Pentelenyi
Klára
K
Rudas
Gábor
G
Molnar
Mária Judit
MJ
D000328:Adult; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D000071058:Huntingtin Protein; D008279:Magnetic Resonance Imaging / Q000379:methods; D009419:Nerve Tissue Proteins / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
C415906:ATXN8OS gene product, human; C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated