Spinocerebellar ataxia (SCA) is a genetic disease with multiple types, each of which could be considered a disease in its own right.
Symptoms[edit | edit source]
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. 
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[edit | edit source]
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 ataxia 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 cares if hand and arm coordination is 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[edit | edit source]
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[edit | edit source]
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)
(Range in Years)
|What the patient experiences||Common origin||Problems|
|SCA1 (ATXN1)||4th decade
(<10 to >60)
|Hypermetric saccades, slow saccades, upper motor neuron
(note: saccades relates to eye movement)
|CAG repeat, 6p (Ataxin 1)|
|SCA2 (ATXN2)||3rd - 4th decade
(<10 to >60)
|Diminished velocity saccades
areflexia (absence of neurologic reflexes)
|Cuba||CAG repeat, 12q|
|SCA3 (MJD) (ATXN3)||4th decade
|Also called Machado-Joseph disease (MJD)
Gaze-evoked nystagmus (a rapid, involuntary, oscillatory motion of the eyeball)
upper motor neuron
|CAG repeat, 14q|
|SCA4 (PLEKHG4)||4th - 7th decade
|Decades||areflexia (absence of neurologic reflexes)||Chromosome 16q|
|SCA5 (SPTBN2)||3rd - 4th decade
|>25 years||Pure cerebellar||Chromosome 11|
|SCA6 (CACNA1A)||5th - 6th decade
|>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 (ATXN7)||3rd - 4th decade
(0.5 - 60)
(1-45; early onset correlates with shorter duration)
|Macular degeneration, upper motor neuron, slow saccades||CAG repeat, 3p (Ataxin 7)|
|SCA8 (IOSCA)||39 yrs
|Normal lifespan||Horizontal nystagmus (a rapid, involuntary, oscillatory motion of the eyeball)||CTG repeat, 13q|
|SCA10 (ATXN10)||36 years||9 years||ataxia, seizures||Mexico||Chromosome 22q linked|
|Normal lifespan||Mild, remain ambulatory (able to walk about on one's own)||15q|
|SCA12 (PPP2R2B)||33 yrs
|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 (PRKCG)||28 yrs
|Myoclonus (a sudden twitching of muscles or parts of muscles, without any rhythm or pattern, occurring in various brain disorders)||19q|
|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|
Inheritance[edit | edit source]
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.
Notable cases[edit | edit source]
Sufferers from the disease include:
- Glyn Worsnip (2 September 1938 - 7 June 1996), British television presenter.
- Aya Kito (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 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.
- UK TV drama My Wind co-stars Vivienne Mah as Xue-Xiu, a girl with spincorebellar ataxia.
References[edit | edit source]
- Genes and Disease at nlm.nih.gov - Gives a concise description of SCA, along with a picture of shrunken degenerated cerebellum.
- GeneTests at NIH/UW sca1
- GeneTests at NIH/UW sca2
- GeneTests at NIH/UW sca3
- machado_joseph at NINDS
- GeneTests at NIH/UW sca6
- GeneTests at NIH/UW sca7
- GeneTests at NIH/UW sca8
- GeneTests at NIH/UW sca10
- GeneTests at NIH/UW sca12
- GeneTests at NIH/UW sca14
[edit | edit source]
- http://www.ataxia.org - National Ataxia Foundation is dedicated to helping families with ataxia through research, education, and support.
- Cerebellar Degenerations at tchain.com
- 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