Family With Dominantly Inherited Ataxia, Amyotrophy, and Peripheral Sensory Loss

Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra

“…Caudate, putamen, and globus pallidus were unremarkable except for a single case that had mild gliosis of the globus pallidus. Four subjects were members of a family with SCA 3 showing predominant pontine atrophy as previously reported [30]. Two of the elderly subjects also met criteria for Alzheimer’s disease.…”

“…In all 10 subjects, there was also basal ganglia involvement as evidenced by MRI atrophy of the region or clinical extra-pyramidal signs. Case reports describe a variety of SCA types accompanied by psychosis [28], including SCA 1 [29], SCA 2 [30, 31], SCA 6 [32], SCA 7 [33], and SCA 17 [34]. However, little is known about the prevalence, clinical features and pathophysiology of psychosis in the broad SCA population or in particular SCAs.…”

Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra

“…Caudate, putamen, and globus pallidus were unremarkable except for a single case that had mild gliosis of the globus pallidus. Four subjects were members of a family with SCA 3 showing predominant pontine atrophy as previously reported [30]. Two of the elderly subjects also met criteria for Alzheimer’s disease.…”

“…In all 10 subjects, there was also basal ganglia involvement as evidenced by MRI atrophy of the region or clinical extra-pyramidal signs. Case reports describe a variety of SCA types accompanied by psychosis [28], including SCA 1 [29], SCA 2 [30, 31], SCA 6 [32], SCA 7 [33], and SCA 17 [34]. However, little is known about the prevalence, clinical features and pathophysiology of psychosis in the broad SCA population or in particular SCAs.…”

Toward understanding Machado–Joseph disease

“…Since the original clinical description of MJD, many affected families have been identified worldwide, both of Portuguese and nonPortuguese ancestry (Eto et al , 1990; Healton et al , 1980; Lima and Coutinho, 1980; Livingstone and Sequeiros, 1984; Sakai et al , 1983; Sequeiros and Suite, 1986; Takiyama et al , 1993; Taniguchi and Konigsmark, 1971). MJD is currently thought to be the most common dominantly inherited ataxia in the world, comprising 15–45% of dominantly inherited ataxia in different countries and ethnic populations (Margolis, 2002; Paulson, 2007; Schols et al , 2004).…”

Generation of Human-Induced Pluripotent Stem Cells to Model Spinocerebellar Ataxia Type 2 In vitro

“…Clinically, SCA2 belongs to a group of SCAs known as autosomal dominant cerebellar ataxia type 1 (ADCA-1), in which cerebellar ataxia (the core phenotype) is associated with extracerebellar neurological abnormalities. Like other disorders of the ADCA-1, the extracerebellar manifestations of SCA2 may include parkinsonism, progressive cognitive impairments, palatal and generalized myoclonus, optic atrophy, distal sensory loss, and adult-onset spinomuscular atrophy (Eto, 1990; Auburger, 2012). However, progressively slow saccadic eye movements that start at an early stage of the disease and areflexia which is often confined to the upper extremities in the beginning distinguish SCA2 from other SCAs.…”

Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra

“…Caudate, putamen, and globus pallidus were unremarkable except for a single case that had mild gliosis of the globus pallidus. Four subjects were members of a family with SCA 3 showing predominant pontine atrophy as previously reported [30]. Two of the elderly subjects also met criteria for Alzheimer’s disease.…”

“…In all 10 subjects, there was also basal ganglia involvement as evidenced by MRI atrophy of the region or clinical extra-pyramidal signs. Case reports describe a variety of SCA types accompanied by psychosis [28], including SCA 1 [29], SCA 2 [30, 31], SCA 6 [32], SCA 7 [33], and SCA 17 [34]. However, little is known about the prevalence, clinical features and pathophysiology of psychosis in the broad SCA population or in particular SCAs.…”

Toward understanding Machado–Joseph disease

“…Since the original clinical description of MJD, many affected families have been identified worldwide, both of Portuguese and nonPortuguese ancestry (Eto et al , 1990; Healton et al , 1980; Lima and Coutinho, 1980; Livingstone and Sequeiros, 1984; Sakai et al , 1983; Sequeiros and Suite, 1986; Takiyama et al , 1993; Taniguchi and Konigsmark, 1971). MJD is currently thought to be the most common dominantly inherited ataxia in the world, comprising 15–45% of dominantly inherited ataxia in different countries and ethnic populations (Margolis, 2002; Paulson, 2007; Schols et al , 2004).…”

Generation of Human-Induced Pluripotent Stem Cells to Model Spinocerebellar Ataxia Type 2 In vitro

“…Clinically, SCA2 belongs to a group of SCAs known as autosomal dominant cerebellar ataxia type 1 (ADCA-1), in which cerebellar ataxia (the core phenotype) is associated with extracerebellar neurological abnormalities. Like other disorders of the ADCA-1, the extracerebellar manifestations of SCA2 may include parkinsonism, progressive cognitive impairments, palatal and generalized myoclonus, optic atrophy, distal sensory loss, and adult-onset spinomuscular atrophy (Eto, 1990; Auburger, 2012). However, progressively slow saccadic eye movements that start at an early stage of the disease and areflexia which is often confined to the upper extremities in the beginning distinguish SCA2 from other SCAs.…”

Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra

“…Caudate, putamen, and globus pallidus were unremarkable except for a single case that had mild gliosis of the globus pallidus. Four subjects were members of a family with SCA 3 showing predominant pontine atrophy as previously reported [30]. Two of the elderly subjects also met criteria for Alzheimer’s disease.…”

“…In all 10 subjects, there was also basal ganglia involvement as evidenced by MRI atrophy of the region or clinical extra-pyramidal signs. Case reports describe a variety of SCA types accompanied by psychosis [28], including SCA 1 [29], SCA 2 [30, 31], SCA 6 [32], SCA 7 [33], and SCA 17 [34]. However, little is known about the prevalence, clinical features and pathophysiology of psychosis in the broad SCA population or in particular SCAs.…”

Toward understanding Machado–Joseph disease

“…Since the original clinical description of MJD, many affected families have been identified worldwide, both of Portuguese and nonPortuguese ancestry (Eto et al , 1990; Healton et al , 1980; Lima and Coutinho, 1980; Livingstone and Sequeiros, 1984; Sakai et al , 1983; Sequeiros and Suite, 1986; Takiyama et al , 1993; Taniguchi and Konigsmark, 1971). MJD is currently thought to be the most common dominantly inherited ataxia in the world, comprising 15–45% of dominantly inherited ataxia in different countries and ethnic populations (Margolis, 2002; Paulson, 2007; Schols et al , 2004).…”

Generation of Human-Induced Pluripotent Stem Cells to Model Spinocerebellar Ataxia Type 2 In vitro

“…Clinically, SCA2 belongs to a group of SCAs known as autosomal dominant cerebellar ataxia type 1 (ADCA-1), in which cerebellar ataxia (the core phenotype) is associated with extracerebellar neurological abnormalities. Like other disorders of the ADCA-1, the extracerebellar manifestations of SCA2 may include parkinsonism, progressive cognitive impairments, palatal and generalized myoclonus, optic atrophy, distal sensory loss, and adult-onset spinomuscular atrophy (Eto, 1990; Auburger, 2012). However, progressively slow saccadic eye movements that start at an early stage of the disease and areflexia which is often confined to the upper extremities in the beginning distinguish SCA2 from other SCAs.…”