The Syndromes Studied

Movement disorders are characterized by abnormalities of voluntary movement and presence of involuntary movements. These disorders are clinically classified into two broad categories: akinetic-rigid disorders, which include Parkinson’s disease, and hyperkinetic disorders, that include dystonias, choreas and tremors.

We are currently following the clinical and genetic aspects of Parkinson’s disease, parkinsonism-dystonia syndromes, primary dystonia, chorea and stiff person syndrome, ataxia.

The syndromes studied in our research team include:

 

PARKINSON DISEASE

 

Parkinson disease autosomal dominant or recessive

–          LRRK2 (PARK8)

–          α-synucelin mutations and dupl-triplications (PARK1, PARK4)

–          Parkin mutations and dupl/deletions (PARK2)

–          PINK1 mutations (PARK6)

–          DJ-1 mutations (PARK7)

 

 

 

Complex parkinsonisms with dystonia or pyramidal signs

–          Kufor Rakeb disease ATP13A2 (PARK9)

–          FBXO7 (PARK15)

–          PLA2G6 (PARK14)

 

–          DNAJC6 (juvenile atypical parkinsonism)

–          SPG11 (complex recessive spastic paraplegia with thin corpus callosum, parkinsonism)

–          SLC30A10 (parkinsonsim dystonia with hyperintensity putamen T1, hypermanganesemia, polycitemia, liver involvement)

–          CLN3 (ceroidolipofuscinosis 3 adult)

–          SCA2 (autosomal dominant spino cerebellar ataxia)

–          DNCT1 ex2 (Dynactin 1, Perry syndrome)

–          ATP6AP2

 

Other movements disorders (genetic chorea and dystonia)

–          ATP7B (Wilson disease)

–          TOR1 gag deletion (DYT1)

–          TUBB4 (DYT4, dominant Dystonia 4 (hereditary whispering dysphonia))

–          THAP1 (DYT6, dominant Dystonia 6 (idiopathic torsion dystonia of ‘mixed’ type)

–          CGH1 (DYT5a, dominant Levodopa responsive dystonia)

–          DYT16 (DYT16, autosomal recessive dystonia parkinsonism)

–          DYT18 (DYT18 dominant Dystonia 18 [paroxysmal exercise-induced dystonia]

–          JPH3 (HDL2)

–          XK (Mc Leod syndrome)

 

Other familial parkinsonism with prominent dementia

–          MAPT (parkinson dementia, PSP, CBD, PPND)

–          Prion gene PRNP (CJD, HDL1, FFI)

 

Neurodegeneration with brain iron accumulation (NBIA)

–          C19orf12

–          FTL1

–          WDR45

–          FA2H

–          PKAN

–          PLA2G6

–          COASY

 

Multisystem atrophy

–          Coq2

 

Ataxia

–          SCA1-2-3-8-17

–          POLG




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