TaoMedAI/RareMedData huggingface dataset:
Spinocerebellar ataxia type 26 (ORPHA:101112)
A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.
Epidemiology
To date, only 23 affected patients have been described from one American family of Norwegian descent.
Clinical description
Spinocerebellar ataxia type 26 (SCA26) onset occurs between the ages of 26-60 with a mean age of onset of 42 years. Slowly progressive gait ataxia and dysarthria were reported in all patients. Nystagmus, impaired pursuit, and dysmetric saccades were described in majority of patitents. Left-sided pyramidal signs (hyperreflexia with positive Babinski sign) were reported in one patient. The disease duration is unknown.
Etiology
A candidate gene for SCA26 has recently been identified as the eukaryotic translation elongation factor 2 (EEF2) gene, located on chromosome 19p13.3. Further confirmatory studies are still required in order to determine if a mutation in this gene directly causes SCA26.
Diagnostic methods
Diagnosis is based on the clinical findings of pure cerebellar ataxia as well as molecular findings. Head magnetic resonance imaging (MRI) usually demonstrates the presence of atrophy of the cerebellum sparing the brainstem and is helpful in excluding other causes of ataxia. Molecular genetic testing identifies a mutation in the EEF2  gene, confirming a diagnosis of SCA26.
Differential diagnosis
Differential diagnoses include other forms of ADCA type III, in particular SCA5, SCA6, SCA11, SCA30 and SCA31.
Antenatal diagnosis
Antenatal diagnosis is possible in families with a known disease causing mutation.
Genetic counseling
SCA26 is inherited autosomal dominantly and genetic counseling is possible. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring.
Management and treatment
There is no cure for SCA26 and treatment is supportive. Neurological follow-up is recommended to monitor the progression of ataxia.
Prognosis
Disease progression is very slow, but precise prognosis is unknown.

                            Last update: 
                            December 2019


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Yoshio TSUBOI  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 27A (ORPHA:98764)
Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.
Epidemiology
Fewer than 30 cases have been reported to date.
Etiology
This subtype is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34).
Prognosis
Prognosis is relatively good. Patients can walk unassisted until the 7th decade of life. Life-threatening status epilepticus and intractable seizure or severe dysphagia are rare.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 28 (ORPHA:101109)
Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.
Epidemiology
Prevalence is unknown. SCA28 accounts for approximately 1.5% of all European cases of ADCA.
Clinical description
The mean age of symptom onset was 19.5 years in the original kindred. Some patients show cognitive impairment. In more advanced stages of the disorder, ophthalmoparesis, slowed saccades, ptosis and pyramidal signs are reported. Patients can walk unassisted until the 7th decade of life. Life-threatening status epilepticus and intractable seizure or severe dysphagia are rare.
Etiology
SCA28 is caused by mutations in the AFG3L2 gene located to chromosome 18p11.21.
Genetic counseling
SCA28 is inherited autosomal dominantly and genetic counseling is possible.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 29 (ORPHA:208513)
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.
Epidemiology
Spinocerebellar ataxia type 29 (SCA29) prevalence is unknown. More than 50 cases have been reported in the literature to date.
Clinical description
SCA29 presents at birth, or shortly after, with manifestations including very slowly progressive or non-progressive gait and limb ataxia causing delayed walking and frequent falling in children. Mild developmental delay, learning difficulties, and language dysfunction are frequently reported. Other manifestations include nystagmus, dysarthria, dysmetria, and dysdiadochokinesia. Affected patients occasionally present with intention tremor, dystonia, and migraine headaches. Although the disease course is not well established, it appears to range from non-progressive or very slowly progressive ataxia (that does not affect ambulation) to progressively disabling ataxia. A slight improvement in cerebellar signs has been reported in some cases over time.
Etiology
SCA29 is due to mutations in the ITPR1 gene (3p26.1), which is also the causal gene of SCA15.
Diagnostic methods
Diagnosis is based on the characteristic clinical findings and molecular genetic testing. As the manifestations of SCA29 are not specific, diagnosis is only confirmed with the finding of a mutation in the ITPR1 gene.
Differential diagnosis
Differential diagnosis includes other types of autosomal dominant cerebellar ataxia.
Antenatal diagnosis
Antenatal diagnosis is possible in families with a known mutation.
Genetic counseling
SCA29 is inherited autosomal dominantly, occasionally autosomal recessively, and genetic counseling is possible.
Management and treatment
There is no cure for SCA29 and treatment is supportive. Annual neurological examinations are recommended to monitor disease progression.
Prognosis
Disease progression is very slow, but precise prognosis is unknown.

                            Last update: 
                            January 2020


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Yoshio TSUBOI  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 30 (ORPHA:211017)
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
Epidemiology
Spinocerebellar ataxia type 30 (SCA30) has only been described in 6 patients from one Australian family to date.
Clinical description
The age of onset ranges from 45 to 76 years with a mean age of onset of 52 years. It presents with oculomotor dysfunction, moderate dysarthria, and ataxia that progresses slowly and eventually leads to mobility impairment. Some patients have also reported mild hyperreflexia in the lower limbs. Rarer manifestations include gaze-evoked nystagmus and dystonia. Head MRI shows atrophy of cerebellum with preservation of nodulus/uvula and brainstem.
Etiology
The causal gene has not yet been identified but it has been linked to chromosome 4q34.3-q35.1.
Diagnostic methods
Diagnosis is based on the characteristic clinical findings and family history of SCA30.
Differential diagnosis
Differential diagnosis includes other types of autosomal dominant cerebellar ataxia.
Antenatal diagnosis
Antenatal diagnosis is not possible, since a causative gene has not yet been identified for SCA30.
Genetic counseling
SCA30 is inherited in an autosomal dominant manner and genetic counseling is possible. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring.
Management and treatment
There is no cure for SCA30 and treatment is supportive. Physical therapy, as well as the use of canes and walkers, should be offered in order to maximize strength and maintain activity. Wheelchairs are eventually necessary. Speech therapy and communication devices may be useful to those with dysarthria. Dysphagia should be monitored to decrease the risk of aspiration pneumonia. In those with vertigo, vestibular suppressants may be beneficial. Annual neurological examinations are recommended to monitor disease progression.
Prognosis
Disease progression is very slow, but precise prognosis is unknown.

                            Last update: 
                            January 2020


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Yoshio TSUBOI  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 31 (ORPHA:217012)
An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.
Epidemiology
Spinocerebellar ataxia type 31 (SCA31) is the third most common form of ADCA in Japan, where more than 20 families have been reported to date. It is rarely found in other Asian countries and is extremely rare in Western countries.
Clinical description
The mean age of disease onset is 58 years but it can present between the ages of 8 to 83 years. Ataxia, dysarthria, and horizontal gaze nystagmus are the common manifestations of SCA31, and the disease duration can be more than 10 years. Less common manifestations include pyramidal signs, tremor, decreased vibration sense, hearing difficulties, and blepharospasm
Etiology
SCA31 is due to non-coding pentanucleotide repeat expansions in the BEAN1 gene (16q21), encoding protein BEAN1.
Diagnostic methods
Diagnosis is based on the characteristic clinical findings and molecular genetic testing. As the manifestations of SCA31 are not specific, diagnosis is only confirmed with the finding of a mutation in the BEAN1 gene
Differential diagnosis
Differential diagnosis includes other types of ADCA.
Genetic counseling
SCA31 is inherited autosomal dominantly with incomplete penetrance and genetic counseling is possible. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring.
Management and treatment
There is no cure for SCA31 and treatment is supportive. Physical therapy, as well as the use of canes and walkers, should be offered in order to maximize strength and maintain activity. Wheelchairs are eventually necessary. Speech therapy and communication devices may be useful to those with dysarthria. Dysphagia should be monitored to decrease the risk of aspiration pneumonia. In those with vertigo, vestibular suppressants may be beneficial. Annual neurological examinations are recommended to monitor disease progression.
Prognosis
Disease progression is very slow. Life expectancy is not reduced but the quality of life can be significantly affected. According to recent reports, patients can become wheelchair bound at age of 79 years, and died at age of 89 years.

                            Last update: 
                            January 2020


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Yoshio TSUBOI  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 32 (ORPHA:276183)
An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.
Epidemiology
Spinocerebellar ataxia type 32 (SCA32) has been reported in one Chinese family to date.
Clinical description
Disease onset occurs in adulthood with females more affected than males. Manifestations include ataxia, cognitive impairment and, in males, azoospermia. Cerebellar atrophy is visible with magnetic resonance imaging.
Etiology
The causal gene of SCA32 has not yet been identified but it is located to chromosome 7q32-q33.
Diagnostic methods
Diagnosis is based on the characteristic clinical findings and family history of the disease.
Differential diagnosis
Differential diagnosis includes other types of ADCA.
Genetic counseling
SCA32 is inherited in an autosomal dominant manner and genetic counseling is possible. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring.
Management and treatment
There is no cure for SCA32 and treatment is supportive. Physical therapy, as well as the use of canes and walkers, should be offered in order to maximize strength and maintain activity. Wheelchairs are eventually necessary. Speech therapy and communication devices may be useful to those with dysarthria. Dysphagia should be monitored to decrease the risk of aspiration pneumonia. Annual neurological examinations are recommended to monitor disease progression.
Prognosis
Precise prognosis is unknown due to limited number of patients reported. Mean age when aid walking needed is about 34 years.

                            Last update: 
                            February 2020


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Yoshio TSUBOI  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 34 (ORPHA:1955)
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.
Epidemiology
To date the disorder has been reported in 45 patients including 4 asymptomatic carriers, from one French-Canadian family and three Japanese families.
Clinical description
Disease onset occurs from shortly after birth to adolescence with the appearance of papulosquamous, ichthyosiform plaques on the limbs, which are often only present in the winter. After the age of 25 years they tend to disappear completely. Progressive ataxia, dysarthria, decreased reflexes, and nystagmus are further clinical signs of the disease that occur after the onset of skin manifestations, generally from the third to fifth decade of life. Patients occasionally present with autonomic dysfunction and pyramidal signs. Cerebellar and pontine atrophy is visible with magnetic resonance imaging (MRI) in individuals who develop cerebellar ataxia.
Etiology
The disorder is due to a mutation in the ELOVL4 gene (6q14).
Diagnostic methods
Diagnosis is based on characteristic clinical findings (skin lesions occurring shortly after birth and adult-onset slowly progressive cerebellar ataxia), and on the molecular genetic testing. Mutations in the ELOVL4 gene confirms diagnosis of SCA34. Magnetic resonance imaging usually shows marked atrophy of the cerebellum and pontine which is sometimes accompanied by Hot Cross Bun sign that is common in cerebellar type of multiple system atrophy.
Differential diagnosis
Differential diagnoses include other forms of autosomal dominant cerebellar ataxia. From the view point of radiological findings, multiple system atrophy is important in differential diagnosis, especially in patients who also develop autonomic dysfunction.
Antenatal diagnosis
Antenatal diagnosis is possible in families with a known ELOVL4 mutation.
Genetic counseling
The disorder is inherited in an autosomal dominant manner and genetic counseling is possible. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring.
Management and treatment
Treatment is only supportive. Physical activity should be maintained as much as possible with the help of prosthetic devices. Motorized chairs/scooters are eventually necessary. Speech therapy and communication devices should be offered to those with severe dysarthria.
Prognosis
Disease progression is slow; the patients require cane or walker in their late 60s, and wheelchair in their 70s.

                            Last update: 
                            January 2020


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Yoshio TSUBOI  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 35 (ORPHA:276193)
An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis.
Epidemiology
Spinocerebellar ataxia type 35 (SCA35) has been reported worldwide in less than 30 cases to date.
Clinical description
Disease onset occurs in adulthood with manifestations of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, pseudobulbar palsy, spasmodic torticollis, extensor plantar responses (Babinski sign), reduced proprioception, and hyperreflexia. Cognitive impairment is rare. Patients are usually wheelchair bound 10 years or more after the onset of symptoms. Head MRI shows diffuse cerebellar atrophy without involvement of the brainstem.
Etiology
SCA35 is caused by a mutation in the TGM6 gene (20p13) encoding transglutaminase 6 (TG6), a member of the transglutaminase family of enzymes. TG6 is expressed in the kidney, skin, eyes and neurons but the exact process that leads to SCA35 is unknown.
Diagnostic methods
Diagnosis is based on the characteristic clinical findings and molecular genetic testing. As the manifestations of SCA35 are not specific, diagnosis is only confirmed with the finding of a mutation in the TGM6 gene.
Differential diagnosis
Differential diagnosis includes other types of ADCA.
Antenatal diagnosis
Antenatal diagnosis is possible in families with a known mutation.
Genetic counseling
SCA35 is inherited autosomal dominantly and genetic counseling is possible. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring.
Management and treatment
There is no cure for SCA35 and treatment is supportive. Physical therapy, as well as the use of canes and walkers, should be offered in order to maximize strength and maintain activity. Wheelchairs are eventually necessary. Speech therapy and communication devices may be useful to those with dysarthria. Annual neurological examinations are recommended to monitor disease progression.
Prognosis
SCA35 is slowly progressive disease, and most of reported patients are usually wheelchair bound 10 years or more after the onset of symptoms.

                            Last update: 
                            January 2020


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Yoshio TSUBOI  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 36 (ORPHA:276198)
An autosomal dominant cerebellar ataxia type 1 that characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.
Epidemiology
Spinocerebellar ataxia type 36 (SCA36) prevalence is unknown. SCA36 has been described in more than 100 families in Asia (Japan and China) and Europe (France, Italy, Poland, and Spain-Galicia). In a US population, SCA36 accounts for 0.7% of disease in a large undiagnosed ataxia cohort.
Clinical description
SCA36 presents in adulthood with ataxic dysarthria, truncal ataxia, limb ataxia, general hyperreflexia and variably occurring lower limb spasticity. Motor neuron involvement occurs later in the disease course and manifests with fasciculations and atrophy of the skeletal muscles and tongue. Sensorineural hearing loss may also be present in some. Oromandibular dystonia is a rare manifestation. Only mild cerebellar atrophy is reported.
Etiology
SCA36 is due to a pathogenic heterozygous GGCCTG repeat expansion in intron 1 of the NOP56 gene (20p13).
Diagnostic methods
Diagnosis is based on the characteristic clinical findings and molecular genetic testing. As the manifestations of SCA36 are not specific, diagnosis is only confirmed with the finding of a pathogenic heterozygous GGCCTG repeat expansion in intron 1 of the NOP56 gene.
Differential diagnosis
Differential diagnosis includes other types of ADCA (Autosomal dominant cerebellar ataxia).
Antenatal diagnosis
Antenatal diagnosis is possible in families with a known genetic cause.
Genetic counseling
SCA36 is inherited autosomal dominantly and genetic counseling is possible. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring.
Management and treatment
There is no cure for SCA36 and treatment is supportive. Physical therapy, as well as the use of canes and walkers, should be offered in order to maximize strength and maintain activity. Wheelchairs are eventually necessary. Speech therapy and communication devices may be useful to those with dysarthria. Annual neurological examinations are recommended to monitor disease progression.

                            Last update: 
                            February 2020


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Yoshio TSUBOI  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 37 (ORPHA:363710)
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements.
Epidemiology
Spinocerebellar ataxia type 37 (SCA37) has been reported in nine members of a Spanish kindred to date.
Clinical description
Disease onset occurs in adulthood (from the ages of 38-64). Clinical manifestations of SCA37 patients are characterized by slowly progressive cerebellar ataxia (starting with falls, dysarthria and clumsiness followed by other cerebellar signs) along with altered vertical eye movements. Generalized cerebellar atrophy is visible with magnetic resonance imaging.
Etiology
SCA37 is due to a pathogenic pentanucleotide ATTTC insertion within the 1p32 5' non-coding regulatory region of the DAB1 gene (1p32.2).
Diagnostic methods
Diagnosis is based on the characteristic clinical findings and molecular genetic testing. As the manifestations of SCA37 are not specific, diagnosis is only confirmed with the finding of a pathogenic mutation in the DAB1 gene.
Differential diagnosis
Differential diagnosis includes other types of autosomal dominant cerebellar ataxia.
Antenatal diagnosis
Prenatal diagnosis is possible when the ATTTC insertion within the DAB1 gene has been identified in a family member.
Genetic counseling
SCA37 is inherited in an autosomal dominant manner and genetic counseling is possible. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring.
Management and treatment
There is no cure for SCA37 and treatment is supportive. Physical therapy, as well as the use of canes and walkers, should be offered in order to maximize strength and maintain activity. Wheelchairs are eventually necessary. Speech therapy and communication devices may be useful to those with dysarthria. Annual neurological examinations are recommended to monitor disease progression.
Prognosis
Precise prognosis is unknown due to small number of patients reported, but disease progression is slow and the patients generally need wheelchair from 10 and 30 years after the disease onset.

                            Last update: 
                            January 2020


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Yoshio TSUBOI  - Dr Zbigniew WSZOLEK