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Spinocerebellar ataxia Classification and external resources
Cerebellum (in blue) of the human brain
ICD-10	G11.
ICD-9	334
DiseasesDB	12339
MeSH	D020754

Spinocerebellar ataxia (SCA) is a genetic disease with multiple types, each of which could be considered a disease in its own right.

Contents 1 Symptoms 2 Treatment and prognosis 3 Diagnosis 4 Types 5 Inheritance 6 Notable cases 7 References 8 External links

Symptoms

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. ^[1]

As with other forms of ataxia, SCA results in unsteady and clumsy motion of the body due to a failure of the fine coordination of muscle movements, along with other symptoms.

The symptoms of the condition vary with the specific type (there are several), and with the individual patient. Generally, a person with ataxia retains full mental capacity but may progressively lose physical control.

Treatment and prognosis

There is no known cure for spinocerebellar ataxia, which is a progressive disease (it gets worse with time), although not all types cause equally severe disability.

Treatments are generally limited to softening symptoms, not the disease itself. The condition can be irreversible. A person with this disease will usually end up needing to use a wheelchair, and eventually they may need assistance to perform daily tasks.

The treatment of incoordination or ataxia, then mostly involves the use of adaptive devices to allow the ataxic individual to maintain as much independence as possible. Such devices may include a cane, crutches, walker, or wheelchair for those with impaired gait; devices to assist with writing, feeding, and self care if hand and arm coordination are impaired; and communication devices for those with impaired speech.

Many patients with hereditary or idiopathic forms of ataxia have other symptoms in addition to ataxia. Medications or other therapies might be appropriate for some of these symptoms, which could include tremor, stiffness, depression, spasticity, and sleep disorders, among others.

Both onset of initial symptoms and duration of disease can be subject to variation. If the disease is caused by a polyglutamine trinucleotide repeat CAG expansion, a longer expansion may lead to an earlier onset and a more radical progression of clinical symptoms.

Diagnosis

It can be easily misdiagnosed as another neurological condition, such as multiple sclerosis (MS).

One means of identifying the disease is with an MRI to view the brain. Once the disease has progressed sufficiently, the cerebellum (a part of the brain) can be seen to have visibly shrunk. The most precise means of identifying SCA, including the specific type, is through DNA analysis. Some, but far from all, types of SCA may be inherited, so a DNA test may be done on the children of a sufferer, to see if they are at risk of developing the condition.

SCA is related to olivopontocerebellar atrophy (OPCA); SCA types 1, 2, and 7 are also types of OPCA. However, not all types of OPCA are types of SCA, and vice versa. This overlapping classification system is both confusing and controversial to some in this field.

Types

The following is a list of some, not all, types of Spinocerebellar ataxia. The first ataxia gene was identified in 1993 for a dominantly inherited type. It was called “Spinocerebellar ataxia type 1" (SCA1). Subsequently, as additional dominant genes were found they were called SCA2, SCA3, etc. Usually, the "type" number of "SCA" refers to the order in which the gene was found. At this time, there are at least 29 different gene mutations which have been found (not all listed).

Identifying the different types of SCA now requires knowledge of the normal genetic code, and faults in this code, which are contained in a person's DNA (Deoxyribonucleic acid). The "CAG" mentioned below is one of many three-letter sequences that makes up the genetic code, this specific one coding the amino acid glutamine. Thus, those ataxias with poly CAG expansions, along with several other neurodegenerative diseases resulting from a poly CAG expansion, are referred to as polyglutamine diseases.

SCA Type	Average Onset (Range in Years)	Average Duration (Range in Years)	What the patient experiences	Common origin	Problems with DNA
SCA1[2] (ATXN1)	4th decade (<10 to >60)	15 years (10-28)	Hypermetric saccades, slow saccades, upper motor neuron (note: saccades relates to eye movement)		CAG repeat, 6p (Ataxin 1)
SCA2[3] (ATXN2)	3rd - 4th decade (<10 to >60)	10 years (1-30)	Diminished velocity saccades areflexia (absence of neurologic reflexes)	Cuba	CAG repeat, 12q
SCA3[4] (MJD) (ATXN3)	4th decade (10-70)	10 years (1-20)	Also called Machado-Joseph disease (MJD)[5] Gaze-evoked nystagmus (a rapid, involuntary, oscillatory motion of the eyeball) upper motor neuron slow saccades	Azores (Portugal)	CAG repeat, 14q
SCA4 (PLEKHG4)	4th - 7th decade (19-72)	Decades	areflexia (absence of neurologic reflexes)		Chromosome 16q
SCA5 (SPTBN2)	3rd - 4th decade (10-68)	>25 years	Pure cerebellar		Chromosome 11
SCA6[6] (CACNA1A)	5th - 6th decade (19-71)	>25 years	Downbeating nystagmus, positional vertigo Symptoms can appear for the first time as late as 65 years old.		CAG repeat, 19p Calcium channel gene
SCA7[7] (ATXN7)	3rd - 4th decade (0.5 - 60)	20 years (1-45; early onset correlates with shorter duration)	Macular degeneration, upper motor neuron, slow saccades		CAG repeat, 3p (Ataxin 7)
SCA8[8] (IOSCA)	39 yrs (18-65)	Normal lifespan	Horizontal nystagmus (a rapid, involuntary, oscillatory motion of the eyeball)		CTG repeat, 13q
SCA10[9] (ATXN10)	36 years	9 years	ataxia, seizures	Mexico	Chromosome 22q linked pentanucleotide repeat
SCA11	30 yrs (15-70)	Normal lifespan	Mild, remain ambulatory (able to walk about on one's own)		15q
SCA12[10] (PPP2R2B)	33 yrs (8-55)		Head and hand tremor, akinesia (loss of normal motor function, resulting in impaired muscle movement)		CAG repeat, 5q
SCA13	Childhood or adulthood depending on mutation	Depending on KCNC3 (a kind of gene)	Mental retardation		19q
SCA14[11] (PRKCG)	28 yrs (12-42)	Decades (1-30)	Myoclonus (a sudden twitching of muscles or parts of muscles, without any rhythm or pattern, occurring in various brain disorders)		19q
SCA16	39 yrs (20-66)	1-40 years	Head and hand tremor		8q
SCA17 (TBP)					CAG repeat, 6q (TATA-binding protein)
SCA19, SCA22			Mild cerebellar syndrome, dysarthria
SCA25	1.5-39 yrs	Unknown	ataxia with sensory neuropathy, vomiting and gastrointestinal pain.		2p

Others include SCA18, SCA20, SCA21, SCA23, SCA26, SCA28, and SCA29.

Four X-linked types have been described (302500, 302600, 301790, 301840), but only the first of these has so far been tied to a gene (SCAX1).

Inheritance

The hereditary ataxias are categorized by mode of inheritance and causative gene or chromosomal locus. The hereditary ataxias can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

• Numerous types of autosomal dominant cerebellar ataxias are now known for which specific genetic information is available. Synonyms for autosomal dominant cerebellar ataxias (ADCA) used prior to the current understanding of the molecular genetics were Marie's ataxia, inherited olivopontocerebellar atrophy, cerebello-olivary atrophy, or the more generic term "spinocerebellar degeneration." (Spinocerebellar degeneration is a rare inherited neurological disorder of the central nervous system characterized by the slow degeneration of certain areas of the brain. There are three forms of spinocerebellar degeneration: Types 1, 2, 3. Symptoms begin during adulthood.)

• There are five typical autosomal recessive disorders in which ataxia is a prominent feature: Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), spastic ataxia. Disorder Subdivisions: Friedreich's ataxia, Spinocerebellar ataxia, Ataxia telangiectasia, Vasomotor ataxia, Vestibulocerebellar, Ataxiadynamia, Ataxiophemia, Olivopontocerebellar atrophy, and Charcot-Marie-Tooth disease.

There are numerous types of autosomal dominant cerebellar ataxias

There are five typical autosomal recessive disorders in which ataxia is a prominent feature

Notable cases

Sufferers from the disease include:

• Glyn Worsnip (2 September 1938 - 7 June 1996), British television presenter.
• Aya Kitō (19 July 1962 - 23 May 1988), a Japanese girl who wrote a diary about her experience with the disease. Her diary, titled '1 Litre of Tears' was published after her death and adopted into a television drama of the 1 Litre no Namida and the film A Litre of Tears.
• The Ulas family featured in the 2006 BBC and NOVA documentary, The Family That Walks On All Fours have nonprogressive congential cerebellar ataxia that led them to walk with a quadrupedal gait.

References

1. ^ Genes and Disease at nlm.nih.gov - Gives a concise description of SCA, along with a picture of shrunken degenerated cerebellum.
2. ^ sca1 at NIH/UW GeneTests
3. ^ sca2 at NIH/UW GeneTests
4. ^ sca3 at NIH/UW GeneTests
5. ^ machado_joseph at NINDS
6. ^ sca6 at NIH/UW GeneTests
7. ^ sca7 at NIH/UW GeneTests
8. ^ sca8 at NIH/UW GeneTests
9. ^ sca10 at NIH/UW GeneTests
10. ^ sca12 at NIH/UW GeneTests
11. ^ sca14 at NIH/UW GeneTests

External links

• http://www.ataxia.org - National Ataxia Foundation is dedicated to helping families with ataxia through research, education, and support.
• Cerebellar Degenerations at tchain.com
• http://leedsdna.info/tests/DRPLA.htm
• http://www.ataxiaforums.co.uk
• Ichi Rittoru no Namida (One Litre of Tears) - A Japanese drama based on the true story of a girl who suffered from Spinocerebellar ataxia.
• CureAtaxia.org - One Chicago family's fight against SCA Type 1 Ataxia

• OMIM: 183090 Spinocerebellar ataxia 1 at NIH's Office of Rare Diseases
• OMIM: 164400 Spinocerebellar ataxia 2 at NIH's Office of Rare Diseases
  • ataxia at NINDS
  • msa at NINDS
  • opca_doc at NINDS
  • MedlinePlus Encyclopedia Olivopontocerebellar atrophy

• OMIM: 607317 Spinocerebellar ataxia, autosomal recessive 4 at NIH's Office of Rare Diseases
• OMIM: 600224 Spinocerebellar ataxia 5 at NIH's Office of Rare Diseases
• OMIM: 605259 Spinocerebellar ataxia 13 at NIH's Office of Rare Diseases
• OMIM: 117360 Spinocerebellar ataxia 30 at NIH's Office of Rare Diseases
• OMIM: 608703 Spinocerebellar ataxia 25 at NIH's Office of Rare Diseases
• OMIM: 600223 Spinocerebellar ataxia 4 at NIH's Office of Rare Diseases
• OMIM: 606002 Spinocerebellar ataxia, autosomal recessive 1 at NIH's Office of Rare Diseases
• OMIM: 271250 Spinocerebellar ataxia, autosomal recessive 3 at NIH's Office of Rare Diseases
• OMIM: 609306 Spinocerebellar ataxia 26 at NIH's Office of Rare Diseases
• OMIM: 608029 Spinocerebellar ataxia, autosomal recessive 6 at NIH's Office of Rare Diseases
• OMIM: 607346 Spinocerebellar ataxia 19 at NIH's Office of Rare Diseases
• OMIM: 608687 Spinocerebellar ataxia 20 at NIH's Office of Rare Diseases
• OMIM: 302600 Spinocerebellar ataxia, X-linked, 2 at NIH's Office of Rare Diseases
• OMIM: 606937 Spinocerebellar ataxia, autosomal recessive 5 at NIH's Office of Rare Diseases
• OMIM: 301840 Spinocerebellar ataxia, X-linked, 4 at NIH's Office of Rare Diseases
• OMIM: 301790 Spinocerebellar ataxia, X-linked, 3 at NIH's Office of Rare Diseases
• OMIM: 109150 Spinocerebellar ataxia 3; Machado Joseph disease at NIH's Office of Rare Diseases
  • machado_joseph/detail_machado_joseph.htm at NINDS
• OMIM: 607458 Spinocerebellar ataxia 18 at NIH's Office of Rare Diseases
• Spinocerebellar ataxia 27 at NIH's Office of Rare Diseases
• OMIM: 164500 Spinocerebellar ataxia 7 at NIH's Office of Rare Diseases
• OMIM: 607454 Spinocerebellar ataxia 99 at NIH's Office of Rare Diseases
• OMIM: 610245 Spinocerebellar ataxia 23 at NIH's Office of Rare Diseases
• OMIM: 610246 Spinocerebellar ataxia 28 at NIH's Office of Rare Diseases
• OMIM: 603680 Spinocerebellar ataxia 8 at NIH's Office of Rare Diseases
• OMIM: 607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy at NIH's Office of Rare Diseases
• OMIM: 605361 Infantile onset Spinocerebellar ataxia at NIH's Office of Rare Diseases
• OMIM: 271245 Spinocerebellar ataxia amyotrophy deafness at NIH's Office of Rare Diseases
• Spinocerebellar ataxia dysmorphism at NIH's Office of Rare Diseases
• OMIM: 301310 Anemia, sideroblastic spinocerebellar ataxia; Pagon Bird Detter syndrome at NIH's Office of Rare Diseases
• OMIM: 229300 Friedreich's ataxia; Spinocerebellar ataxia, Friedreich at NIH's Office of Rare Diseases

v • d • e Pathology of the nervous system, primarily CNS (G00-G47, 320-349) Inflammatory Meningitis (Arachnoiditis, Aseptic meningitis, Tuberculous meningitis) - Encephalitis - Myelitis - Encephalomyelitis (Acute disseminated) - Tropical spastic paraparesis - Cavernous sinus thrombosis Systemic atrophies Huntington's disease - Spinocerebellar ataxia (Friedreich's ataxia, Ataxia telangiectasia, Hereditary spastic paraplegia) - Spinal muscular atrophy: Werdnig-Hoffman - Kugelberg-Welander - Fazio-Londe - MND (ALS, PMA, PBP, PP, PLS) Extrapyramidal and movement disorders Parkinson's disease - Neuroleptic malignant syndrome - Postencephalitic parkinsonism - Pantothenate kinase-associated neurodegeneration - Progressive supranuclear palsy - Striatonigral degeneration - Dystonia/Dyskinesia (Spasmodic torticollis, Meige's, Blepharospasm) - Essential tremor - Myoclonus - Lafora - Chorea (Choreoathetosis) - Restless legs - Stiff person Other degenerative/ demyelinating diseases dementia: Alzheimer's - Pick's - Dementia with Lewy bodies - Frontotemporal lobar degeneration mitochondrial disease: Leigh's demyelinating: Multiple sclerosis - Devic's - Central pontine myelinolysis - Transverse myelitis - Marchiafava-Bignami disease - CAMFAK syndrome - Alpers' Seizure/epilepsy Focal - Generalised - Status epilepticus - Myoclonic epilepsy Headache Migraine (Familial hemiplegic) - Cluster - Vascular - Tension Vascular Transient ischemic attack (Amaurosis fugax, Transient global amnesia) Cerebrovascular disease (MCA, ACA, PCA, Foville's, Millard-Gubler, Lateral medullary, Weber's, Lacunar stroke) Sleep disorders Insomnia - Hypersomnia - Sleep apnea (Obstructive, Ondine's curse) - Narcolepsy - Cataplexy - Kleine-Levin - Circadian rhythm sleep - Delayed sleep phase - Advanced sleep phase Intracranial hypertension Hydrocephalus (Normal pressure) - Idiopathic intracranial hypertension Other encephalopathy Brain herniation - Cerebral edema - Reye's Other spinal cord disease Syringomyelia - Syringobulbia - Morvan's syndrome - Spinal cord compression

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