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Autosomal dominant sensory ataxia 1(SNAX1)

MedGen UID:
332346
•Concept ID:
C1837015
•
Disease or Syndrome
Synonym: Ataxia, sensory, autosomal dominant
 
Gene (location): RNF170 (8p11.21)
 
Monarch Initiative: MONDO:0012166
OMIM®: 608984

Definition

Autosomal dominant sensory ataxia-1 (SNAX1) is a peripheral neuropathy resulting from the degeneration of dorsal root ganglia that affects both central and peripheral neurites of sensory neurons. Affected individuals show adult onset of slowly progressive clumsiness, gait ataxia, walking difficulties, and distal sensory loss which may be associated with abnormal sensory nerve conduction values. Some patients have vestibular ocular dysfunction. Muscle weakness and atrophy are not observed, and brain imaging is normal (summary by Cortese et al., 2020). [from OMIM]

Clinical features

From HPO
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.
See: Feature record | Search on this feature
Areflexia
MedGen UID:
115943
•Concept ID:
C0234146
•
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
See: Feature record | Search on this feature
Positive Romberg sign
MedGen UID:
66017
•Concept ID:
C0240914
•
Finding
The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.
See: Feature record | Search on this feature
Sensory ataxia
MedGen UID:
66020
•Concept ID:
C0240991
•
Sign or Symptom
Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.
See: Feature record | Search on this feature
Hyporeflexia
MedGen UID:
195967
•Concept ID:
C0700078
•
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
See: Feature record | Search on this feature
Distal sensory impairment of all modalities
MedGen UID:
322937
•Concept ID:
C1836527
•
Finding
Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.
See: Feature record | Search on this feature
Gait instability, worse in the dark
MedGen UID:
324663
•Concept ID:
C1837016
•
Finding
See: Feature record | Search on this feature

Professional guidelines

PubMed

Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.
Gardella E, Møller RS
Epilepsia 2019 Dec;60 Suppl 3:S77-S85. doi: 10.1111/epi.16319. PMID: 31904124
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW; CINCH investigators
Brain 2007 Oct;130(Pt 10):2484-93. Epub 2007 Jun 15 doi: 10.1093/brain/awm126. PMID: 17575281
Diagnosis and management of early- and late-onset cerebellar ataxia.
Brusse E, Maat-Kievit JA, van Swieten JC
Clin Genet 2007 Jan;71(1):12-24. doi: 10.1111/j.1399-0004.2006.00722.x. PMID: 17204042

Recent clinical studies

Etiology

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ
Am J Hum Genet 2023 Jan 5;110(1):105-119. Epub 2022 Dec 8 doi: 10.1016/j.ajhg.2022.11.015. PMID: 36493768Free PMC Article
Cerebellar ataxias: an update.
Manto M, Gandini J, Feil K, Strupp M
Curr Opin Neurol 2020 Feb;33(1):150-160. doi: 10.1097/WCO.0000000000000774. PMID: 31789706
Spinocerebellar ataxia: an update.
Sullivan R, Yau WY, O'Connor E, Houlden H
J Neurol 2019 Feb;266(2):533-544. Epub 2018 Oct 3 doi: 10.1007/s00415-018-9076-4. PMID: 30284037Free PMC Article
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Wijemanne S, Jankovic J
Nat Rev Neurol 2015 Jul;11(7):414-24. Epub 2015 Jun 23 doi: 10.1038/nrneurol.2015.86. PMID: 26100751
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

Diagnosis

Cerebellar ataxias: an update.
Manto M, Gandini J, Feil K, Strupp M
Curr Opin Neurol 2020 Feb;33(1):150-160. doi: 10.1097/WCO.0000000000000774. PMID: 31789706
POLG-related disorders and their neurological manifestations.
Rahman S, Copeland WC
Nat Rev Neurol 2019 Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0. PMID: 30451971Free PMC Article
Spinocerebellar ataxia: an update.
Sullivan R, Yau WY, O'Connor E, Houlden H
J Neurol 2019 Feb;266(2):533-544. Epub 2018 Oct 3 doi: 10.1007/s00415-018-9076-4. PMID: 30284037Free PMC Article
Spinocerebellar ataxias.
Soong BW, Morrison PJ
Handb Clin Neurol 2018;155:143-174. doi: 10.1016/B978-0-444-64189-2.00010-X. PMID: 29891056
Ataxia.
Akbar U, Ashizawa T
Neurol Clin 2015 Feb;33(1):225-48. doi: 10.1016/j.ncl.2014.09.004. PMID: 25432731Free PMC Article

Therapy

Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
Naseri N, Sharma M, Velinov M
Clin Genet 2021 Jan;99(1):111-118. Epub 2020 Aug 26 doi: 10.1111/cge.13829. PMID: 32783189Free PMC Article
Current and Promising Therapies in Autosomal Recessive Ataxias.
Picher-Martel V, Dupre N
CNS Neurol Disord Drug Targets 2018;17(3):161-171. doi: 10.2174/1871527317666180419115029. PMID: 29676235
Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review.
Milne SC, Corben LA, Georgiou-Karistianis N, Delatycki MB, Yiu EM
Neurorehabil Neural Repair 2017 Jul;31(7):609-622. Epub 2017 Jun 9 doi: 10.1177/1545968317712469. PMID: 28595509
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Wijemanne S, Jankovic J
Nat Rev Neurol 2015 Jul;11(7):414-24. Epub 2015 Jun 23 doi: 10.1038/nrneurol.2015.86. PMID: 26100751
Episodic ataxia type 2.
Strupp M, Zwergal A, Brandt T
Neurotherapeutics 2007 Apr;4(2):267-73. doi: 10.1016/j.nurt.2007.01.014. PMID: 17395137

Prognosis

Spinocerebellar ataxia type 31: A clinical and radiological literature review.
Saucier J, Al-Qadi M, Amor MB, Ishikawa K, Chamard-Witkowski L
J Neurol Sci 2023 Jan 15;444:120527. Epub 2022 Dec 16 doi: 10.1016/j.jns.2022.120527. PMID: 36563608
Neuroacanthocytosis syndromes.
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.
Whaley NR, Fujioka S, Wszolek ZK
Orphanet J Rare Dis 2011 May 28;6:33. doi: 10.1186/1750-1172-6-33. PMID: 21619691Free PMC Article
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Clinical prediction guides

Spinocerebellar ataxia type 31: A clinical and radiological literature review.
Saucier J, Al-Qadi M, Amor MB, Ishikawa K, Chamard-Witkowski L
J Neurol Sci 2023 Jan 15;444:120527. Epub 2022 Dec 16 doi: 10.1016/j.jns.2022.120527. PMID: 36563608
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ
Am J Hum Genet 2023 Jan 5;110(1):105-119. Epub 2022 Dec 8 doi: 10.1016/j.ajhg.2022.11.015. PMID: 36493768Free PMC Article
Pathogenic mechanisms underlying spinocerebellar ataxia type 1.
Tejwani L, Lim J
Cell Mol Life Sci 2020 Oct;77(20):4015-4029. Epub 2020 Apr 18 doi: 10.1007/s00018-020-03520-z. PMID: 32306062Free PMC Article
Molecular Mechanisms and Therapeutic Strategies in Spinocerebellar Ataxia Type 7.
Karam A, Trottier Y
Adv Exp Med Biol 2018;1049:197-218. doi: 10.1007/978-3-319-71779-1_9. PMID: 29427104
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article

Recent systematic reviews

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article
Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.
Ham M, Han J, Osann K, Smith M, Kimonis V
Mitochondrion 2019 May;46:262-269. Epub 2018 Aug 27 doi: 10.1016/j.mito.2018.07.006. PMID: 30165240
Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review.
Milne SC, Corben LA, Georgiou-Karistianis N, Delatycki MB, Yiu EM
Neurorehabil Neural Repair 2017 Jul;31(7):609-622. Epub 2017 Jun 9 doi: 10.1177/1545968317712469. PMID: 28595509
Neurological manifestations of autosomal dominant familial Alzheimer's disease: a comparison of the published literature with the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS).
Tang M, Ryman DC, McDade E, Jasielec MS, Buckles VD, Cairns NJ, Fagan AM, Goate A, Marcus DS, Xiong C, Allegri RF, Chhatwal JP, Danek A, Farlow MR, Fox NC, Ghetti B, Graff-Radford NR, Laske C, Martins RN, Masters CL, Mayeux RP, Ringman JM, Rossor MN, Salloway SP, Schofield PR, Morris JC, Bateman RJ; Dominantly Inherited Alzheimer Network (DIAN)
Lancet Neurol 2016 Dec;15(13):1317-1325. Epub 2016 Oct 21 doi: 10.1016/S1474-4422(16)30229-0. PMID: 27777020Free PMC Article
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

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