Machado-Joseph-Azorean Disease

Dopaminergic response in Parkinsonian phenotype of Machado‐Joseph disease

“…Although intrafamilial phenotypic variability has been described in MJD,1 intra‐individual variability has not been reported so far. In MJD, parkinsonian phenotype is rare and usually occurs as atypical with features like gait ataxia, peripheral neuropathy, oculomotor involvement or fasciculations 4–6. Recently, an PD‐like phenotype has been reported in an African‐American family with MJD,2 similar to our patient of Ghanian origin.…”

“…It is noteworthy that our patient responded to L ‐dopa and DA. Response to L ‐dopa in MJD has been described 3, 4, 6, 7. In accordance, damage of the nigrostriatal dopamine transporter system and correlation with phenotype of extrapyramidal signs8 and dysfunction of the nigro‐striatal dopaminergic system9, 10 has been found in MJD patients.…”

Dopaminergic response in Parkinsonian phenotype of Machado‐Joseph disease

“…Although intrafamilial phenotypic variability has been described in MJD,1 intra‐individual variability has not been reported so far. In MJD, parkinsonian phenotype is rare and usually occurs as atypical with features like gait ataxia, peripheral neuropathy, oculomotor involvement or fasciculations 4–6. Recently, an PD‐like phenotype has been reported in an African‐American family with MJD,2 similar to our patient of Ghanian origin.…”

“…It is noteworthy that our patient responded to L ‐dopa and DA. Response to L ‐dopa in MJD has been described 3, 4, 6, 7. In accordance, damage of the nigrostriatal dopamine transporter system and correlation with phenotype of extrapyramidal signs8 and dysfunction of the nigro‐striatal dopaminergic system9, 10 has been found in MJD patients.…”

CDK5 protects from caspase‐induced Ataxin‐3 cleavage and neurodegeneration

“…Affected patients suffer from progressive gait and limb ataxia, postural instability, weight loss, and premature death. Pathology is characterized by severe neuronal loss in the spinal cord, cerebellum, brainstem, and substantia nigra (Fowler ). Interestingly, inclusion bodies can be found in affected as well as non‐affected neurons (Paulson et al .…”

Machado-Joseph Disease / Spinocerebellar Ataxia Type 3

“…MJD patients present attention and executive dysfunctions, and mildly depressed mood (Klinke et al, 2010). Based on clinical manifestations, MJD was divided into four sub phenotypes (Riess et al, 2008), which in some cases during the progression of the disease can evolve from one type to the other (Fowler, 1984). Recently, an additional MJD type (V) has been proposed based in a homozygous 33-years old patient of Portuguese/Brazilian descent (Lysenko et al, 2010) (Table 1).…”

Dopaminergic response in Parkinsonian phenotype of Machado‐Joseph disease

“…Although intrafamilial phenotypic variability has been described in MJD,1 intra‐individual variability has not been reported so far. In MJD, parkinsonian phenotype is rare and usually occurs as atypical with features like gait ataxia, peripheral neuropathy, oculomotor involvement or fasciculations 4–6. Recently, an PD‐like phenotype has been reported in an African‐American family with MJD,2 similar to our patient of Ghanian origin.…”

“…It is noteworthy that our patient responded to L ‐dopa and DA. Response to L ‐dopa in MJD has been described 3, 4, 6, 7. In accordance, damage of the nigrostriatal dopamine transporter system and correlation with phenotype of extrapyramidal signs8 and dysfunction of the nigro‐striatal dopaminergic system9, 10 has been found in MJD patients.…”

CDK5 protects from caspase‐induced Ataxin‐3 cleavage and neurodegeneration

“…Affected patients suffer from progressive gait and limb ataxia, postural instability, weight loss, and premature death. Pathology is characterized by severe neuronal loss in the spinal cord, cerebellum, brainstem, and substantia nigra (Fowler ). Interestingly, inclusion bodies can be found in affected as well as non‐affected neurons (Paulson et al .…”

Machado-Joseph Disease / Spinocerebellar Ataxia Type 3

“…MJD patients present attention and executive dysfunctions, and mildly depressed mood (Klinke et al, 2010). Based on clinical manifestations, MJD was divided into four sub phenotypes (Riess et al, 2008), which in some cases during the progression of the disease can evolve from one type to the other (Fowler, 1984). Recently, an additional MJD type (V) has been proposed based in a homozygous 33-years old patient of Portuguese/Brazilian descent (Lysenko et al, 2010) (Table 1).…”

Dopaminergic response in Parkinsonian phenotype of Machado‐Joseph disease

“…Although intrafamilial phenotypic variability has been described in MJD,1 intra‐individual variability has not been reported so far. In MJD, parkinsonian phenotype is rare and usually occurs as atypical with features like gait ataxia, peripheral neuropathy, oculomotor involvement or fasciculations 4–6. Recently, an PD‐like phenotype has been reported in an African‐American family with MJD,2 similar to our patient of Ghanian origin.…”

“…It is noteworthy that our patient responded to L ‐dopa and DA. Response to L ‐dopa in MJD has been described 3, 4, 6, 7. In accordance, damage of the nigrostriatal dopamine transporter system and correlation with phenotype of extrapyramidal signs8 and dysfunction of the nigro‐striatal dopaminergic system9, 10 has been found in MJD patients.…”

CDK5 protects from caspase‐induced Ataxin‐3 cleavage and neurodegeneration

“…Affected patients suffer from progressive gait and limb ataxia, postural instability, weight loss, and premature death. Pathology is characterized by severe neuronal loss in the spinal cord, cerebellum, brainstem, and substantia nigra (Fowler ). Interestingly, inclusion bodies can be found in affected as well as non‐affected neurons (Paulson et al .…”

Machado-Joseph Disease / Spinocerebellar Ataxia Type 3

“…MJD patients present attention and executive dysfunctions, and mildly depressed mood (Klinke et al, 2010). Based on clinical manifestations, MJD was divided into four sub phenotypes (Riess et al, 2008), which in some cases during the progression of the disease can evolve from one type to the other (Fowler, 1984). Recently, an additional MJD type (V) has been proposed based in a homozygous 33-years old patient of Portuguese/Brazilian descent (Lysenko et al, 2010) (Table 1).…”