spinocerebellar ataxia

脊髄小脳変性症 spinocerebellar degeneration SCD = SCA

WordNet

1. inability to coordinate voluntary muscle movements; unsteady movements and staggering gait (同)ataxy, dyssynergia, motor_ataxia

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/08/29 02:13:46」(JST)

wiki en

[Wiki en表示]

Spinocerebellar ataxia
Cerebellum (in blue) of the human brain
Classification and external resources
Specialty	neurology
ICD-10	G11.1
ICD-9-CM	334
OMIM	164400
DiseasesDB	12339
MeSH	D020754

Spinocerebellar ataxia (SCA), also known as spinocerebellar atrophy or spinocerebellar degeneration, is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a disease in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time. SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder.

Classification

A few SCAs remain unspecified and can not be precisely diagnosed, but in the last decade genetic testing has allowed precise identification of dozens of different SCAs and more tests are being added each year. In 2008, a genetic ataxia blood test developed to test for 12 types of SCA, Friedreich's ataxia, and several others. However, since not every SCA has been genetically identified some SCAs are still diagnosed by neurological examination, which may include a physical exam, family history, MRI scanning of the brain and spine, and spinal tap.

Many SCAs below fall under the category of polyglutamine diseases, which are caused when a disease-associated protein (i.e., ataxin-1, ataxin-3, etc.) contains a large number of repeats of glutamine residues, termed a polyQ sequence or a "CAG trinucleotide repeat" disease for either the one-letter designation or codon for glutamine respectively. The threshold for symptoms in most forms of SCA is around 35, though for SCA3 it extends beyond 50. Most polyglutamine diseases are dominant due to the interactions of resulting polyQ tail.

The first ataxia gene was identified in 1993 and called "Spinocerebellar ataxia type 1" (SCA1); later genes 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 that have been found.

The following is a list of some of the many types of Spinocerebellar ataxia.

SCA Type	Average Onset (Range in Years)	Average Duration (Range in Years)	What the patient experiences	Common origin	Problems with DNA
SCA1 (ATXN1)	4th decade (<10 to >60)	15 years (10–35)	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)	10 years (1–30)	Diminished velocity saccades areflexia (absence of neurologic reflexes)	Cuba	CAG repeat, 12q
SCA3 (MJD) (ATXN3)	4th decade (10–70)	10 years (1–20)	Also called Machado-Joseph disease (MJD) 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 (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 (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 (IOSCA)	39 yrs (18–65)	Normal lifespan	Horizontal nystagmus (a rapid, involuntary, oscillatory motion of the eyeball), instability, lack of coordination		CTG repeat, 13q
SCA10 (ATXN10)	36 years	9 years	ataxia, seizures	Mexico	Chromosome 22q linked pentanucleotide repeat
SCA11 (TTBK2)	30 yrs (15–70)	Normal lifespan	Mild, remain ambulatory (able to walk about on one's own)		15q
SCA12 (PPP2R2B)	33 yrs (8–55)		Head and hand tremor, akinesia (loss of normal motor function, resulting in impaired muscle movement)		CAG repeat, 5q
SCA13 (KCNC3)	Childhood or adulthood depending on mutation	Depending on KCNC3 (a kind of gene)	Mental retardation		19q
SCA14 (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 (ITPR1)	39 yrs (20–66)	1–40 years	Head and hand tremor		8q
SCA17 (TBP)					CAG repeat, 6q (TATA-binding protein)
SCA19, SCA22 (KCND3)			Mild cerebellar syndrome, dysarthria
SCA25	1.5–39 yrs	Unknown	ataxia with sensory neuropathy, vomiting and gastrointestinal pain.		2p
SCA27 (FGF14)	15–20 yrs	Unknown	ataxia with low cognition, dyskinesias and tremor.		FGF14 13q34

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).

Signs and symptoms

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and is often associated with poor coordination of hands, speech, and eye movements. A review of different clinical features among SCA subtypes was recently published describing the frequency of non-cerebellar features, like parkinsonism, chorea, pyramidalism, cognitive impairment, peripheral neuropathy, seizures, among others. As with other forms of ataxia, SCA frequently results in atrophy of the cerebellum, loss of fine coordination of muscle movements leading to unsteady and clumsy motion, and other symptoms.

The symptoms of an ataxia vary with the specific type and with the individual patient. In general, a person with ataxia retains full mental capacity but progressively loses physical control.

Cause

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.

• Many types of autosomal dominant cerebellar ataxias for which specific genetic information is available are now known. 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 have been reported cases where a polyglutamine expansion may lengthen when passed down, which often can result in an earlier age-of-onset and a more severe disease phenotype for individuals who inherit the disease allele. This falls under the category of genetic anticipation.

• There are numerous types of autosomal-dominant cerebellar ataxias

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

Treatment

There is no cure for spinocerebellar ataxia, which is considered to be a progressive and irreversible disease, although not all types cause equally severe disability.

In general, treatments are directed towards alleviating symptoms, not the disease itself. 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 are variable. 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. Typically, a person afflicted with this disease will eventually be unable to perform daily tasks (ADLs). However, rehabilitation therapists can help patients to maximize their ability of self-care and delay deterioration to certain extent. Researchers are exploring multiple avenues for a cure including RNAi and the use of Stem Cells and several other avenues.

On January 18, 2017 BioBlast Pharma announced completion of Phase 2a clinical trials of their medication, Trehalose, in the treatment of SCA3. BioBlast has received FDA Fast Track status and Orphan Drug status for their treatment. The information provided by BioBlast in their research indicates that they hope this treatment may prove efficacious in other SCA treatments that have similar pathology related to PolyA and PolyQ diseases.

In addition, Dr. Beverly Davidson has been working on a methodology using RNAi technology to find a potential cure for over 2 decades. Her research began in the mid-1990s and progressed to work with mouse models about a decade later and most recently has moved to a study with non-human primates. The results from her most recent research "are supportive of clinical application of this gene therapy". Dr. Davidson along with Dr. Pedro Gonzalez-Alegre are currently working to move this technique into a Phase 1 clinical trial.

Finally, another gene transfer technology discovered in 2011 has also been shown by Dr. Davidson to hold great promise and offers yet another avenue to a potential future cure.

Rehabilitation

Physical therapists can assist patients in maintaining their level of independence through therapeutic exercise programmes. One recent research report demonstrated a gain of 2 SARA points (Scale for the Assessment and Rating of Ataxia) from physical therapy. In general, physical therapy emphasises postural balance and gait training for ataxia patients. General conditioning such as range-of-motion exercises and muscle strengthening would also be included in therapeutic exercise programmes. Research showed that spinocerebellar ataxia 2 (SCA2) patients with a mild stage of the disease gained significant improvement in static balance and neurological indices after six months of a physical therapy exercise training program. Occupational therapists may assist patients with incoordination or ataxia issues through the use of adaptive devices. Such devices may include a cane, crutches, walker, or wheelchair for those with impaired gait. Other devices are available to assist with writing, feeding, and self care if hand and arm coordination are impaired. A randomised clinical trial revealed that an intensive rehabilitation program with physical and occupational therapies for patients with degenerative cerebellar diseases can significantly improve functional gains in ataxia, gait, and activities of daily living. Some level of improvement was shown to be maintained 24 weeks post-treatment. Speech language pathologists may use both behavioral intervention strategies as well as augmentative and alternative communication devices to help patients with impaired speech.

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

• Bird, Thomas D (23 January 2014). Hereditary Ataxia Overview. PMID 20301317. NBK1138.  In Pagon RA, Bird TD, Dolan CR, et al., eds. (1993). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. 
• Moreira, Maria-Ceu; Koenig, Michel (December 8, 2011). Ataxia with Oculomotor Apraxia Type 2. PMID 20301333. NBK1154.  In GeneReviews
• Pulst, Stefan-M (1 March 2012). Spinocerebellar Ataxia Type 13. PMID 20301404. NBK1225.  In GeneReviews
• Brussino, Alessandro; Brusco, Alfredo; Dürr, Alexandra (7 February 2013). Spinocerebellar Ataxia Type 28. PMID 21595125. NBK54582.  In GeneReviews
• Online Mendelian Inheritance in Man (OMIM) Spinocerebellar Ataxia, Autosomal Recessive 1; SCAR1 -606002
• Online Mendelian Inheritance in Man (OMIM) Senataxin; SETX -608465

• ataxia at NINDS
• msa at NINDS
• opca_doc at NINDS
• MedlinePlus Encyclopedia Olivopontocerebellar atrophy
• Spinocerebellar ataxia 27 at NIH's Office of Rare Diseases
• Spinocerebellar ataxia dysmorphism at NIH's Office of Rare Diseases

Name	OMIM	RareDiseases	Other
Anemia, sideroblastic spinocerebellar ataxia; Pagon Bird Detter syndrome	301310	Disease ID 668 at NIH's Office of Rare Diseases
Friedreich's ataxia; Spinocerebellar ataxia, Friedreich	229300	Disease ID 6468 at NIH's Office of Rare Diseases
Infantile onset Spinocerebellar ataxia	605361	Disease ID 4062 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 1	164400	Disease ID 4071 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 2	183090	Disease ID 4072 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 3; Machado Joseph disease	109150	Disease ID 6801 at NIH's Office of Rare Diseases	machado_joseph/detail_machado_joseph.htm at NINDS
Spinocerebellar ataxia 4	600223	Disease ID 9970 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 5	600224	Disease ID 4953 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 7	164500	Disease ID 4955 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 8	603680	Disease ID 4956 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 13	605259	Disease ID 9611 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 18	607458	Disease ID 9976 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 19	607346	Disease ID 9969 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 20	608687	Disease ID 9997 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 21	607454	Disease ID 9999 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 23	610245	Disease ID 9950 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 25	608703	Disease ID 9996 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 26	609306	Disease ID 9995 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 28	610246	Disease ID 9951 at NIH's Office of Rare Diseases
Spinocerebellar ataxia 30	117360	Disease ID 9975 at NIH's Office of Rare Diseases
Spinocerebellar ataxia amyotrophy deafness	271245	Disease ID 4957 at NIH's Office of Rare Diseases
Spinocerebellar ataxia, autosomal recessive 1	606002	Disease ID 4949 at NIH's Office of Rare Diseases
Spinocerebellar ataxia, autosomal recessive 3	271250	Disease ID 9971 at NIH's Office of Rare Diseases
Spinocerebellar ataxia, autosomal recessive 4	607317	Disease ID 4952 at NIH's Office of Rare Diseases
Spinocerebellar ataxia, autosomal recessive 5	606937	Disease ID 9977 at NIH's Office of Rare Diseases
Spinocerebellar ataxia, autosomal recessive 6	608029	Disease ID 4954 at NIH's Office of Rare Diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy	607250	Disease ID 10000 at NIH's Office of Rare Diseases
Spinocerebellar ataxia, X-linked, 2	302600	Disease ID 9978 at NIH's Office of Rare Diseases
Spinocerebellar ataxia, X-linked, 3	301790	Disease ID 9981 at NIH's Office of Rare Diseases
Spinocerebellar ataxia, X-linked, 4	301840	Disease ID 9980 at NIH's Office of Rare Diseases

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 脊髄小脳変性症 the spinocerebellar ataxias
• 2. 成人における小脳性運動失調の概要 overview of cerebellar ataxia in adults
• 3. 舞踏病の概要 overview of chorea
• 4. 遺伝性運動失調の概要 overview of the hereditary ataxias
• 5. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders

English Journal

• Toxic effects of expanded ataxin-1 involve mechanical instability of the nuclear membrane.

• Mapelli L, Canale C, Pesci D, Averaimo S, Guizzardi F, Fortunati V, Falasca L, Piacentini M, Gliozzi A, Relini A, Mazzanti M, Jodice C.SourceDepartment of Biomolecular Science and Biotechnology, University of Milan, Milan, Italy.
• Biochimica et biophysica acta.Biochim Biophys Acta.2012 Jun;1822(6):906-17. Epub 2012 Feb 4.
• Ataxin 1 (ATXN1) is the protein involved in spinocerebellar ataxia type 1, one of nine dominantly inherited neurodegenerative diseases triggered by polyglutamine expansion. One of the isolated polyglutamine tracts properties is to interact with lipid bilayers. Here we used a multidisciplinary approa
• PMID 22330095

• Identification and quantification of differentially expressed proteins in plasma of spinocerebellar ataxia type 12.

• Swarup V, Srivastava AK, Rajeswari MR.SourceDepartment of Biochemistry, All India Institute of Medical Sciences, New Delhi, India.
• Neuroscience research.Neurosci Res.2012 Jun;73(2):161-7. Epub 2012 Mar 16.
• Spinocerebellar ataxia 12 (SCA12) is a unique dominant type of ataxia characterized by early and prominent action tremors, memory deficit, neuropathy, dysarthria, etc. The expansion of DNA triplet (CAG) repeats in 5'UTR of PPP2R2B gene appears to be the cause for the pathogenesis of the neurodegener
• PMID 22426495

Japanese Journal

• 症例報告 初期には脊髄小脳変性症と診断され,オリーブ・橋・小脳病変が高度であった進行性核上性麻痺の1剖検例

• 岩崎 靖,森 恵子,伊藤 益美 [他]
• 臨床神経学 51(10), 756-760, 2011-10
• NAID 40019031123

• Elucidation of the Molecular Mechanism and Exploration of Novel Therapeutics for Spinocerebellar Ataxia Caused by Mutant Protein Kinase Cγ

• SEKI Takahiro,ADACHI Naoko,ABE SEKI Nana,SHIMAHARA Takayuki,TAKAHASHI Hideyuki,YAMAMOTO Kazuhiro,SAITO Naoaki,SAKAI Norio
• Journal of pharmacological sciences 116(3), 239-247, 2011-07-20
• NAID 10029894921

Related Links

• Spinocerebellar ataxia - Genes and Disease - NCBI Bookshelf

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. National Center for Biotechnology Information (US). Genes and Disease ... Persons with spinocerebellar ataxia experience a degeneration of ...

• Spinocerebellar ataxia | Facebook

Spinocerebellar ataxia. 587 likes · 3 talking about this. Spinocerebellar ataxia is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a disease in its own right. An estimated 150,000 ...

Related Pictures

---

★リンクテーブル★

リンク元	「オリーブ橋小脳萎縮症」「脊髄小脳変性症」「SCA」「spinocerebellar ataxia type 2」「spinocerebellar ataxia type 5」
拡張検索	「spinocerebellar ataxia type 1」「spinocerebellar ataxia type 4」「spinocerebellar ataxia type 7」

「オリーブ橋小脳萎縮症」

　　[★]

英

olivopontocerebellar atrophy, OPCA, olivopontocerebellar atrophies

同

デジュリーヌ・トーマ病 Dejerine-Thomas disease、オリーブ・橋・小脳萎縮症 olivo-ponto-cerebellar atrophy、オリーブ橋小脳変性症 olivopontocerebellar degeneration

関

spinocerebellar ataxia, SCA1、多系統萎縮症、脊髄小脳変性症

概念

脊髄小脳変性症との関係

• 脊髄小脳変性症 spinocerebellar degeneration SCD

• 1. 孤発性脊髄小脳変性症

• A. 多系統萎縮症 multiple system atrophy MSA

• オリーブ核・橋・小脳萎縮症 OPCA

多系統萎縮症

			小脳失調	自律神経症状	錐体外路症状
オリーブ橋小脳萎縮症	OPCA	MSA-C	○	△	△
Shy-Drager症候群	SDS		△	○	△
線条体黒質変性症	SND	MSA-P	△	△	○

症状

YN.J-124

• 歩行障害→運動失調→平衡障害→構音障害
• 1. 小脳症状
• 2. 錐体路症状
• 3. 錐体外路症状
• 4. 自立心液晶状
• 5. 知能低下

治療

• 酒石酸プロチレリン(TRH)

予後(YN.J-124)

• 緩徐進行。発症後5-10年で死亡

国試

• 099A045

「脊髄小脳変性症」

　　[★]

英

spinocerebellar degeneration SCD, spinocerebellar ataxia SCA

関

難病

概念

• 特定疾患治療研究事業に指定される難病

分類

• 脊髄小脳変性症 spinocerebellar degeneration SCD

• 1. 孤発性脊髄小脳変性症

• A. 多系統萎縮症 multiple system atrophy MSA

• オリーブ核・橋・小脳萎縮症 OPCA
• Shy-Drager症候群 SDS
• 線条体黒質変性症 SND

• B. 晩発性小脳皮質萎縮症 LCCA

• 二次性小脳皮質萎縮症

• アルコール中毒
• 薬剤性(フェニトインなど)
• 甲状腺機能低下症
• 傍腫瘍性(肺小細胞癌、卵巣癌、乳癌など)

• C. 抗神経自己抗体 抗Yo抗体など

• 2. 遺伝性脊髄小脳変性症

• A. 常染色体優性遺伝型小脳失調症

• spinocerebellar ataxia(SCA) type 1-17

• 脊髄小脳変性症3型 SCA3 Machado-Joseph病
• 脊髄小脳変性症6型 SCA6

• 歯状核赤核淡蒼球ルイ体萎縮症 DRPLA
• 優性遺伝性純粋小脳型失調症 16q-ADCA

• B. 常染色体劣性遺伝型小脳失調症

• フリードライヒ運動失調症/Friedreich失調症
• ビタミンE単独欠乏性失調症 AVED
• 眼球運動失行と低アルブミン血症を伴う早発性小脳失調症 EOAH

• C. 遺伝性周期性失調症

• 3. 家族性痙性対麻痺

参考

• 1. 脊髄小脳変性症 - 難病情報センター

• http://www.nanbyou.or.jp/entry/284

「SCA」

　　[★]

• 脊髄小脳変性症 spinocerebellar degeneration=脊髄小脳失調症 spinocerebellar ataxia
• 鎌状赤血球性貧血 sickle cell anemia
• 上小脳動脈 superior cerebellar artery
• 選択的腹腔動脈造影 selective celiac angiography
• 鎖骨下動脈 subclavian artery
• 心臓突然死 心臓突然死 sudden cardiac arrest 突然の心臓停止

「spinocerebellar ataxia type 2」

　　[★]

脊髄小脳失調症2型

関

dominantly-inherited spinocerebellar ataxia、spinocerebellar ataxia、spinocerebellar ataxia type 1、spinocerebellar ataxia type 4、spinocerebellar ataxia type 5、spinocerebellar ataxia type 6、spinocerebellar ataxia type 7、spinocerebellar atrophy

「spinocerebellar ataxia type 5」

　　[★]

脊髄小脳失調症5型

関

dominantly-inherited spinocerebellar ataxia、spinocerebellar ataxia、spinocerebellar ataxia type 1、spinocerebellar ataxia type 2、spinocerebellar ataxia type 4、spinocerebellar ataxia type 6、spinocerebellar ataxia type 7、spinocerebellar atrophy

「spinocerebellar ataxia type 1」

　　[★]

脊髄小脳失調症1型、脊髄小脳変性症1型

関

dominantly-inherited spinocerebellar ataxia、SCA1、spinocerebellar ataxia、spinocerebellar ataxia type 2、spinocerebellar ataxia type 4、spinocerebellar ataxia type 5、spinocerebellar ataxia type 6、spinocerebellar ataxia type 7、spinocerebellar atrophy

「spinocerebellar ataxia type 4」

　　[★]

脊髄小脳失調症4型

関

dominantly-inherited spinocerebellar ataxia、spinocerebellar ataxia、spinocerebellar ataxia type 1、spinocerebellar ataxia type 2、spinocerebellar ataxia type 5、spinocerebellar ataxia type 6、spinocerebellar ataxia type 7、spinocerebellar atrophy

「spinocerebellar ataxia type 7」

　　[★]

脊髄小脳失調症7型

関

dominantly-inherited spinocerebellar ataxia、spinocerebellar ataxia、spinocerebellar ataxia type 1、spinocerebellar ataxia type 2、spinocerebellar ataxia type 4、spinocerebellar ataxia type 5、spinocerebellar ataxia type 6、spinocerebellar atrophy