U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal recessive spinocerebellar ataxia 7(SCAR7)

MedGen UID:
324520
Concept ID:
C1836474
Disease or Syndrome
Synonym: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
SNOMED CT: Autosomal recessive spinocerebellar ataxia type 7 (785301002); Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (785301002); SCAR7 - autosomal recessive spinocerebellar ataxia type 7 (785301002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): TPP1 (11p15.4)
 
Monarch Initiative: MONDO:0012235
OMIM®: 609270
Orphanet: ORPHA284324

Definition

Autosomal recessive spinocerebellar ataxia is a neurologic disorder characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life (summary by Dy et al., 2015). [from OMIM]

Clinical features

From HPO
Urinary urgency
MedGen UID:
39315
Concept ID:
C0085606
Finding
Urge incontinence is the strong, sudden need to urinate.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Unsteady gait
MedGen UID:
68544
Concept ID:
C0231686
Finding
A shaky or wobbly manner of walking.
Clumsiness
MedGen UID:
66690
Concept ID:
C0233844
Sign or Symptom
Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Postural tremor
MedGen UID:
66696
Concept ID:
C0234378
Sign or Symptom
A type of tremors that is triggered by holding a limb in a fixed position.
Scanning speech
MedGen UID:
116113
Concept ID:
C0240952
Mental or Behavioral Dysfunction
An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Limb ataxia
MedGen UID:
196692
Concept ID:
C0750937
Finding
A kind of ataxia that affects movements of the extremities.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Impaired vibratory sensation
MedGen UID:
220959
Concept ID:
C1295585
Finding
A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Truncal titubation
MedGen UID:
382380
Concept ID:
C2674512
Finding
Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.
Oculomotor apraxia
MedGen UID:
483686
Concept ID:
C3489733
Disease or Syndrome
Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.
Diplopia
MedGen UID:
41600
Concept ID:
C0012569
Disease or Syndrome
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Hypermetric saccades
MedGen UID:
140835
Concept ID:
C0423083
Finding
A saccade that overshoots the target with the dynamic saccade.
Saccadic smooth pursuit
MedGen UID:
373096
Concept ID:
C1836479
Finding
An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive spinocerebellar ataxia 7
Follow this link to review classifications for Autosomal recessive spinocerebellar ataxia 7 in Orphanet.

Professional guidelines

PubMed

Shackelford R
Biomolecules 2024 Oct 8;14(10) doi: 10.3390/biom14101264. PMID: 39456197Free PMC Article
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
Levy A, Lang AE
Mov Disord 2018 Aug;33(8):1238-1247. Epub 2018 Feb 13 doi: 10.1002/mds.27319. PMID: 29436738

Recent clinical studies

Etiology

Jovanovski-Srceva M, Kondov G, Kartalov A, Georgiev A, Kuzmanovski I, Osmani B, Andov M, Gavrilovska-Brzanov A, Jakupi N, Stevic M, Stojanoski S
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2023 Dec 1;44(3):65-71. Epub 2023 Dec 18 doi: 10.2478/prilozi-2023-0048. PMID: 38109457
Yau WY, O'Connor E, Sullivan R, Akijian L, Wood NW
FEBS J 2018 Oct;285(19):3669-3682. Epub 2018 Sep 10 doi: 10.1111/febs.14644. PMID: 30152109
Dumitrache LC, McKinnon PJ
Mech Ageing Dev 2017 Jan;161(Pt A):121-129. Epub 2016 Apr 26 doi: 10.1016/j.mad.2016.04.009. PMID: 27125728Free PMC Article
Mavrou A, Tsangaris GT, Roma E, Kolialexi A
Anticancer Res 2008 Jan-Feb;28(1B):401-5. PMID: 18383876
Radford DM, Zehnbauer BA
Surg Clin North Am 1996 Apr;76(2):205-20. doi: 10.1016/s0039-6109(05)70434-5. PMID: 8610259

Diagnosis

Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article
Coutelier M, Stevanin G, Brice A
J Neurol 2015 Oct;262(10):2382-95. Epub 2015 Apr 11 doi: 10.1007/s00415-015-7725-4. PMID: 25862482
Anheim M, Tranchant C, Koenig M
N Engl J Med 2012 Feb 16;366(7):636-46. doi: 10.1056/NEJMra1006610. PMID: 22335741
van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C
J Med Genet 1996 Feb;33(2):153-6. doi: 10.1136/jmg.33.2.153. PMID: 8929954Free PMC Article
Swift M, Chase CL, Morrell D
Cancer Genet Cytogenet 1990 May;46(1):21-7. doi: 10.1016/0165-4608(90)90004-t. PMID: 2184933

Therapy

Ahmed O, Felimban Y, Almehdar A
Hematology 2021 Dec;26(1):348-354. doi: 10.1080/16078454.2021.1908725. PMID: 33843495
Zheng R, Zhao Y, Wu J, Wang Y, Liu JL, Zhou ZL, Zhou XT, Chen DN, Liao WH, Li JD
Mol Med Rep 2018 Jul;18(1):261-267. Epub 2018 May 3 doi: 10.3892/mmr.2018.8955. PMID: 29749493Free PMC Article
Mizutani S, Takagi M
Int J Hematol 2013 Jan;97(1):37-42. Epub 2012 Dec 25 doi: 10.1007/s12185-012-1240-5. PMID: 23266960
Giardino G, Fusco A, Romano R, Gallo V, Maio F, Esposito T, Palamaro L, Parenti G, Salerno MC, Vajro P, Pignata C
Eur J Neurol 2013 May;20(5):740-7. Epub 2012 Nov 4 doi: 10.1111/ene.12024. PMID: 23121321
Koksal Y, Caliskan U, Ucar C, Yurtcu M, Artac H, Ilerisoy-Yakut Z, Reisli I
Pediatr Hematol Oncol 2007 Sep;24(6):431-6. doi: 10.1080/08880010701451434. PMID: 17710660

Prognosis

Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article
Koksal Y, Caliskan U, Ucar C, Yurtcu M, Artac H, Ilerisoy-Yakut Z, Reisli I
Pediatr Hematol Oncol 2007 Sep;24(6):431-6. doi: 10.1080/08880010701451434. PMID: 17710660
Radford DM, Zehnbauer BA
Surg Clin North Am 1996 Apr;76(2):205-20. doi: 10.1016/s0039-6109(05)70434-5. PMID: 8610259
Teplitz RL
Arch Neurol 1978 Sep;35(9):553-4. doi: 10.1001/archneur.1978.00500330001001. PMID: 687181

Clinical prediction guides

Bourseguin J, Cheng W, Talbot E, Hardy L, Lai J, Jeffries AM, Lodato MA, Lee EA, Khoronenkova SV
Nucleic Acids Res 2022 Mar 21;50(5):2700-2718. doi: 10.1093/nar/gkac104. PMID: 35212385Free PMC Article
Concannon P, Gatti RA
Hum Mutat 1997;10(2):100-7. doi: 10.1002/(SICI)1098-1004(1997)10:2<100::AID-HUMU2>3.0.CO;2-O. PMID: 9259193
Radford DM, Zehnbauer BA
Surg Clin North Am 1996 Apr;76(2):205-20. doi: 10.1016/s0039-6109(05)70434-5. PMID: 8610259
Kojis TL, Gatti RA, Sparkes RS
Cancer Genet Cytogenet 1991 Oct 15;56(2):143-56. doi: 10.1016/0165-4608(91)90164-p. PMID: 1756458
Teplitz RL
Arch Neurol 1978 Sep;35(9):553-4. doi: 10.1001/archneur.1978.00500330001001. PMID: 687181

Recent systematic reviews

Milovanović A, Westenberger A, Stanković I, Tamaš O, Branković M, Marjanović A, Laabs BH, Brand M, Rajalingam R, Marras C, Lohmann K, Branković V, Novaković I, Petrović I, Svetel M, Klein C, Kostić VS, Dragašević-Mišković N
Mov Disord 2024 May;39(5):887-892. Epub 2024 Mar 12 doi: 10.1002/mds.29729. PMID: 38469933
Petley E, Yule A, Alexander S, Ojha S, Whitehouse WP
PLoS One 2022;17(3):e0264177. Epub 2022 Mar 15 doi: 10.1371/journal.pone.0264177. PMID: 35290391Free PMC Article
Moeini Shad T, Yazdani R, Amirifar P, Delavari S, Heidarzadeh Arani M, Mahdaviani SA, Sadeghi-Shabestari M, Aghamohammadi A, Rezaei N, Abolhassani H
Front Immunol 2021;12:779502. Epub 2022 Jan 14 doi: 10.3389/fimmu.2021.779502. PMID: 35095854Free PMC Article
van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA
Clin Genet 2016 Aug;90(2):105-17. Epub 2016 Jan 20 doi: 10.1111/cge.12710. PMID: 26662178
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...