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Spinocerebellar ataxia 44(SCA44)

MedGen UID:
1611168
Concept ID:
C4521563
Disease or Syndrome
Synonyms: SCA44; SPINOCEREBELLAR ATAXIA 44
 
Gene (location): GRM1 (6q24.3)
 
Monarch Initiative: MONDO:0033479
OMIM®: 617691

Clinical features

From HPO
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
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.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
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.
Dysdiadochokinesis
MedGen UID:
115975
Concept ID:
C0234979
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
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.
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.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Brisk reflexes
MedGen UID:
382164
Concept ID:
C2673700
Finding
Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Frequent falls
MedGen UID:
163408
Concept ID:
C0850703
Finding
Hypermetric saccades
MedGen UID:
140835
Concept ID:
C0423083
Finding
A saccade that overshoots the target with the dynamic saccade.

Professional guidelines

PubMed

Woelke S, Valesky E, Bakhtiar S, Pommerening H, Pfeffermann LM, Schubert R, Zielen S
Front Immunol 2018;9:2000. Epub 2018 Sep 18 doi: 10.3389/fimmu.2018.02000. PMID: 30279689Free PMC Article
Zaltzman R, Sharony R, Klein C, Gordon CR
J Neurol 2016 Nov;263(11):2207-2214. Epub 2016 Aug 8 doi: 10.1007/s00415-016-8251-8. PMID: 27502086
Rahman MS, Sarkar MA, Rahman MF, Paul SK, Nagai SY, Uddin MJ, Toda T
Mymensingh Med J 2015 Jan;24(1):44-51. PMID: 25725667

Recent clinical studies

Etiology

Shen XN, Wu KM, Huang YY, Guo Y, Huang SY, Zhang YR, Chen SF, Wang HF, Zhang W, Cheng W, Cui M, Dong Q, Yu JT
Neurobiol Dis 2023 Jun 1;181:106112. Epub 2023 Mar 30 doi: 10.1016/j.nbd.2023.106112. PMID: 37003406
Sikandar A, Liu XH, Xu HL, Li Y, Lin YQ, Chen XY, Li GH, Lin MT, Wang N, Chen WJ, Ni GX, Gan SR
Parkinsonism Relat Disord 2023 Jan;106:105236. Epub 2022 Dec 6 doi: 10.1016/j.parkreldis.2022.105236. PMID: 36529111
McGlashan HL, Blanchard CV, Luscombe C, Prasad M, Chow G, Auer DP, Whitehouse WP, Dineen RA
Eur J Paediatr Neurol 2022 Sep;40:34-39. Epub 2022 Jul 21 doi: 10.1016/j.ejpn.2022.07.004. PMID: 35932633
Moscovich M, Munhoz RP, Moro A, Raskin S, McFarland K, Ashizawa T, Teive HAG, Silveira-Moriyama L
Cerebellum 2019 Feb;18(1):85-90. doi: 10.1007/s12311-018-0954-1. PMID: 29922950Free PMC Article
Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M
Mov Disord 2016 Jan;31(1):62-9. Epub 2015 Sep 21 doi: 10.1002/mds.26382. PMID: 26388117

Diagnosis

Shen XN, Wu KM, Huang YY, Guo Y, Huang SY, Zhang YR, Chen SF, Wang HF, Zhang W, Cheng W, Cui M, Dong Q, Yu JT
Neurobiol Dis 2023 Jun 1;181:106112. Epub 2023 Mar 30 doi: 10.1016/j.nbd.2023.106112. PMID: 37003406
Paolini Paoletti F, Prontera P, Nigro P, Simoni S, Cappelletti G, Filidei M, Calabresi P, Parnetti L, Tambasco N
Neurol Sci 2021 Oct;42(10):4309-4315. Epub 2021 May 24 doi: 10.1007/s10072-021-05313-z. PMID: 34031796
Azevedo PB, Rocha AG, Keim LMN, Lavinsky D, Furtado GV, de Mattos EP, Vargas FR, Leotti VB, Saraiva-Pereira ML, Jardim LB; Rede Neurogenetica
Cerebellum 2019 Jun;18(3):388-396. doi: 10.1007/s12311-019-1004-3. PMID: 30637674
Soong BW, Morrison PJ
Handb Clin Neurol 2018;155:143-174. doi: 10.1016/B978-0-444-64189-2.00010-X. PMID: 29891056
Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M
Mov Disord 2016 Jan;31(1):62-9. Epub 2015 Sep 21 doi: 10.1002/mds.26382. PMID: 26388117

Therapy

Sikandar A, Liu XH, Xu HL, Li Y, Lin YQ, Chen XY, Li GH, Lin MT, Wang N, Chen WJ, Ni GX, Gan SR
Parkinsonism Relat Disord 2023 Jan;106:105236. Epub 2022 Dec 6 doi: 10.1016/j.parkreldis.2022.105236. PMID: 36529111
Sonoda Y, Yamanaka Y, Sawano S, Komada R, Kugo M, Kitamura A, Ogawa N, Yamakawa I, Kim H, Sanada M, Imai S, Urushitani M
Int J Rehabil Res 2021 Jun 1;44(2):104-109. doi: 10.1097/MRR.0000000000000455. PMID: 33481455
Jacobi H, du Montcel ST, Romanzetti S, Harmuth F, Mariotti C, Nanetti L, Rakowicz M, Makowicz G, Durr A, Monin ML, Filla A, Roca A, Schöls L, Hengel H, Infante J, Kang JS, Timmann D, Casali C, Masciullo M, Baliko L, Melegh B, Nachbauer W, Bürk-Gergs K, Schulz JB, Riess O, Reetz K, Klockgether T
Lancet Neurol 2020 Sep;19(9):738-747. doi: 10.1016/S1474-4422(20)30235-0. PMID: 32822634
Woelke S, Valesky E, Bakhtiar S, Pommerening H, Pfeffermann LM, Schubert R, Zielen S
Front Immunol 2018;9:2000. Epub 2018 Sep 18 doi: 10.3389/fimmu.2018.02000. PMID: 30279689Free PMC Article
Rodríguez-Labrada R, Velázquez-Pérez L, Auburger G, Ziemann U, Canales-Ochoa N, Medrano-Montero J, Vázquez-Mojena Y, González-Zaldivar Y
Mov Disord 2016 Apr;31(4):570-8. Epub 2016 Feb 5 doi: 10.1002/mds.26532. PMID: 26846400

Prognosis

McGlashan HL, Blanchard CV, Luscombe C, Prasad M, Chow G, Auer DP, Whitehouse WP, Dineen RA
Eur J Paediatr Neurol 2022 Sep;40:34-39. Epub 2022 Jul 21 doi: 10.1016/j.ejpn.2022.07.004. PMID: 35932633
Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Kang JS, Klockgether T, Tezenas du Montcel S
Lancet Neurol 2018 Apr;17(4):327-334. Epub 2018 Mar 13 doi: 10.1016/S1474-4422(18)30042-5. PMID: 29553382
Monte TL, Reckziegel ER, Augustin MC, Silva ASP, Locks-Coelho LD, Barsottini O, Pedroso JL, Vargas FR, Saraiva-Pereira ML, Leotti VB, Jardim LB; Rede Neurogenética
Cerebellum 2017 Aug;16(4):852-858. doi: 10.1007/s12311-017-0855-8. PMID: 28456900
Nakamura K, Yoshida K, Matsushima A, Shimizu Y, Sato S, Yahikozawa H, Ohara S, Yazawa M, Ushiyama M, Sato M, Morita H, Inoue A, Ikeda SI
Cerebellum 2017 Apr;16(2):518-524. doi: 10.1007/s12311-016-0833-6. PMID: 27830516
García-Murias M, Quintáns B, Arias M, Seixas AI, Cacheiro P, Tarrío R, Pardo J, Millán MJ, Arias-Rivas S, Blanco-Arias P, Dapena D, Moreira R, Rodríguez-Trelles F, Sequeiros J, Carracedo A, Silveira I, Sobrido MJ
Brain 2012 May;135(Pt 5):1423-35. Epub 2012 Apr 3 doi: 10.1093/brain/aws069. PMID: 22492559Free PMC Article

Clinical prediction guides

Shen XN, Wu KM, Huang YY, Guo Y, Huang SY, Zhang YR, Chen SF, Wang HF, Zhang W, Cheng W, Cui M, Dong Q, Yu JT
Neurobiol Dis 2023 Jun 1;181:106112. Epub 2023 Mar 30 doi: 10.1016/j.nbd.2023.106112. PMID: 37003406
Sikandar A, Liu XH, Xu HL, Li Y, Lin YQ, Chen XY, Li GH, Lin MT, Wang N, Chen WJ, Ni GX, Gan SR
Parkinsonism Relat Disord 2023 Jan;106:105236. Epub 2022 Dec 6 doi: 10.1016/j.parkreldis.2022.105236. PMID: 36529111
McGlashan HL, Blanchard CV, Luscombe C, Prasad M, Chow G, Auer DP, Whitehouse WP, Dineen RA
Eur J Paediatr Neurol 2022 Sep;40:34-39. Epub 2022 Jul 21 doi: 10.1016/j.ejpn.2022.07.004. PMID: 35932633
Stezin A, Bhardwaj S, Hegde S, Jain S, Bharath RD, Saini J, Pal PK
Parkinsonism Relat Disord 2021 Apr;85:78-83. Epub 2021 Mar 13 doi: 10.1016/j.parkreldis.2021.02.028. PMID: 33756405Free PMC Article
Moscovich M, Munhoz RP, Moro A, Raskin S, McFarland K, Ashizawa T, Teive HAG, Silveira-Moriyama L
Cerebellum 2019 Feb;18(1):85-90. doi: 10.1007/s12311-018-0954-1. PMID: 29922950Free PMC Article

Recent systematic reviews

Parati M, Ambrosini E, DE Maria B, Gallotta M, Dalla Vecchia LA, Ferriero G, Ferrante S
Eur J Phys Rehabil Med 2022 Jun;58(3):363-377. Epub 2022 Jan 5 doi: 10.23736/S1973-9087.22.07037-X. PMID: 34985239Free PMC Article

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