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Spinocerebellar ataxia, autosomal recessive 32(SCAR32)

MedGen UID:
1802496
Concept ID:
C5676978
Disease or Syndrome
Synonym: SCAR32
 
Gene (location): PRDX3 (10q26.11)
 
Monarch Initiative: MONDO:0859245
OMIM®: 619862

Definition

Autosomal recessive spinocerebellar ataxia-32 (SCAR32) is a neurologic disorder characterized by the onset of gait ataxia in the second or third decades of life. The disorder is slowly progressive. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy (Rebelo et al., 2021). [from OMIM]

Clinical features

From HPO
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
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.
Torticollis
MedGen UID:
11859
Concept ID:
C0040485
Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
Bradykinesia
MedGen UID:
115925
Concept ID:
C0233565
Sign or Symptom
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
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.
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.
Abnormal nerve conduction velocity
MedGen UID:
355800
Concept ID:
C1866772
Finding
Atrophy/Degeneration affecting the brainstem
MedGen UID:
870454
Concept ID:
C4024900
Disease or Syndrome
Limb myoclonus
MedGen UID:
1368754
Concept ID:
C4477055
Sign or Symptom
Somatic sensory dysfunction
MedGen UID:
1790456
Concept ID:
C5551413
Finding
An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.
Hypomimic face
MedGen UID:
208827
Concept ID:
C0813217
Finding
A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
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.
Gaze-evoked nystagmus
MedGen UID:
1808161
Concept ID:
C5574666
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.

Recent clinical studies

Etiology

Bourassa J, Best KL, Gagnon C, Hébert LJ, Brais B, Routhier F
Disabil Rehabil Assist Technol 2022 Nov;17(8):907-915. Epub 2020 Sep 26 doi: 10.1080/17483107.2020.1821104. PMID: 32981404
Bourcier D, Bélanger M, Côté I, Brais B, Synofzik M, Brisson JD, Rodrigue X, Gagnon MM, Mathieu J, Gagnon C
J Neurol Sci 2020 Oct 15;417:117050. Epub 2020 Jul 18 doi: 10.1016/j.jns.2020.117050. PMID: 32736199
Kraft S, Furtado S, Ranawaya R, Parboosingh J, Bleoo S, McElligott K, Bridge P, Spacey S, Das S, Suchowersky O
Can J Neurol Sci 2005 Nov;32(4):450-8. doi: 10.1017/s0317167100004431. PMID: 16408574
Birrell GW, Kneebone K, Nefedov M, Nefedova E, Jartsev MN, Mitsui M, Gatti RA, Lavin MF
Hum Mutat 2005 Jun;25(6):593. doi: 10.1002/humu.9341. PMID: 15880721
Bit-Avragim N, Perrot A, Schöls L, Hardt C, Kreuz FR, Zühlke C, Bubel S, Laccone F, Vogel HP, Dietz R, Osterziel KJ
J Mol Med (Berl) 2001;78(11):626-32. doi: 10.1007/s001090000162. PMID: 11269509

Diagnosis

Kuhn K, Lederman HM, McGrath-Morrow SA
Expert Opin Investig Drugs 2023 Jul-Dec;32(8):693-704. Epub 2023 Aug 28 doi: 10.1080/13543784.2023.2249399. PMID: 37622329Free PMC Article
Bourassa J, Best KL, Gagnon C, Hébert LJ, Brais B, Routhier F
Disabil Rehabil Assist Technol 2022 Nov;17(8):907-915. Epub 2020 Sep 26 doi: 10.1080/17483107.2020.1821104. PMID: 32981404
Liu X, Wang L, Chen J, Kang C, Li J
Medicine (Baltimore) 2021 Dec 17;100(50):e28008. doi: 10.1097/MD.0000000000028008. PMID: 34918652Free PMC Article
Bourcier D, Bélanger M, Côté I, Brais B, Synofzik M, Brisson JD, Rodrigue X, Gagnon MM, Mathieu J, Gagnon C
J Neurol Sci 2020 Oct 15;417:117050. Epub 2020 Jul 18 doi: 10.1016/j.jns.2020.117050. PMID: 32736199
Synofzik M, Schüle R
Mov Disord 2017 Mar;32(3):332-345. Epub 2017 Feb 14 doi: 10.1002/mds.26944. PMID: 28195350Free PMC Article

Therapy

Kuhn K, Lederman HM, McGrath-Morrow SA
Expert Opin Investig Drugs 2023 Jul-Dec;32(8):693-704. Epub 2023 Aug 28 doi: 10.1080/13543784.2023.2249399. PMID: 37622329Free PMC Article
Bourcier D, Bélanger M, Côté I, Brais B, Synofzik M, Brisson JD, Rodrigue X, Gagnon MM, Mathieu J, Gagnon C
J Neurol Sci 2020 Oct 15;417:117050. Epub 2020 Jul 18 doi: 10.1016/j.jns.2020.117050. PMID: 32736199
Tallaksen CM, Berg JE
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S289-93. Epub 2009 Nov 4 doi: 10.1007/s10545-009-1224-7. PMID: 19898953
Yamada Y, Inoue R, Fukao T, Kaneko H, Isogai K, Fukuda S, Shimozawa N, Suzuki Y, Kondo N, Azuma E, Sakurai M
Pediatr Hematol Oncol 1998 Sep-Oct;15(5):425-9. doi: 10.3109/08880019809016571. PMID: 9783309

Prognosis

Lessard I, St-Gelais R, Hébert LJ, Côté I, Mathieu J, Brais B, Gagnon C
Orphanet J Rare Dis 2021 Oct 14;16(1):432. doi: 10.1186/s13023-021-02054-2. PMID: 34649570Free PMC Article
Pietrucha BM, Heropolitańska-Pliszka E, Wakulińska A, Skopczyńska H, Gatti RA, Bernatowska E
J Pediatr Hematol Oncol 2010 Jan;32(1):e28-30. doi: 10.1097/MPH.0b013e3181bfd3d9. PMID: 20051774
Birrell GW, Kneebone K, Nefedov M, Nefedova E, Jartsev MN, Mitsui M, Gatti RA, Lavin MF
Hum Mutat 2005 Jun;25(6):593. doi: 10.1002/humu.9341. PMID: 15880721
Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR
Nat Genet 2002 Oct;32(2):267-72. Epub 2002 Sep 16 doi: 10.1038/ng987. PMID: 12244316
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

Clinical prediction guides

Bourassa J, Best KL, Gagnon C, Hébert LJ, Brais B, Routhier F
Disabil Rehabil Assist Technol 2022 Nov;17(8):907-915. Epub 2020 Sep 26 doi: 10.1080/17483107.2020.1821104. PMID: 32981404
Lessard I, St-Gelais R, Hébert LJ, Côté I, Mathieu J, Brais B, Gagnon C
Orphanet J Rare Dis 2021 Oct 14;16(1):432. doi: 10.1186/s13023-021-02054-2. PMID: 34649570Free PMC Article
Bourcier D, Bélanger M, Côté I, Brais B, Synofzik M, Brisson JD, Rodrigue X, Gagnon MM, Mathieu J, Gagnon C
J Neurol Sci 2020 Oct 15;417:117050. Epub 2020 Jul 18 doi: 10.1016/j.jns.2020.117050. PMID: 32736199
Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schöls L, Schüle R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Marzoli SB, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F
Ann Neurol 2020 Jul;88(1):18-32. Epub 2020 Apr 21 doi: 10.1002/ana.25723. PMID: 32219868Free PMC Article
Synofzik M, Schüle R
Mov Disord 2017 Mar;32(3):332-345. Epub 2017 Feb 14 doi: 10.1002/mds.26944. PMID: 28195350Free PMC Article

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