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Spinocerebellar ataxia autosomal recessive with axonal neuropathy(SCAN1)

MedGen UID:
337609
Concept ID:
C1846574
Disease or Syndrome
Synonyms: SCAN1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): TDP1 (14q32.11)
OMIM®: 607250
Orphanet: ORPHA94124

Disease characteristics

Spinocerebellar ataxia with axonal neuropathy (SCAN1) is characterized by late-childhood-onset slowly progressive cerebellar ataxia, followed by areflexia and signs of peripheral neuropathy. Gaze nystagmus and cerebellar dysarthria usually develop after the onset of ataxic gait. As the disease advances, pain and touch sensation become impaired in the hands and legs; vibration sense disappears in hands and lower thigh. Individuals with advanced disease develop a steppage gait and pes cavus and eventually become wheelchair dependent. [from GeneReviews]
Authors:
Hok Khim Fam  |  Mustafa AM Salih  |  Hiroshi Takashima, et. al.   view full author information

Clinical features

Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Steppage gait
MedGen UID:
98105
Concept ID:
C0427149
Sign or Symptom
An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
Ataxia
MedGen UID:
504767
Concept ID:
CN001146
Finding
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- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Peripheral axonal neuropathy
MedGen UID:
505547
Concept ID:
CN003137
Finding
An abnormality characterized by disruption of the normal functioning of peripheral axons.
Distal amyotrophy
MedGen UID:
338530
Concept ID:
C1848736
Finding
Muscular atrophy affecting muscles in the distal portions of the extremities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia autosomal recessive with axonal neuropathy
Follow this link to review classifications for Spinocerebellar ataxia autosomal recessive with axonal neuropathy in Orphanet.

Recent clinical studies

Etiology

Gazulla J, Mayayo-Sinués E, Benavente I, Modrego PJ, Berciano J
Can J Neurol Sci 2014 Jan;41(1):37-41. PMID: 24384335
Berciano J, García A, Infante J
Handb Clin Neurol 2013;115:907-32. doi: 10.1016/B978-0-444-52902-2.00051-5. PMID: 23931821
Finsterer J
Can J Neurol Sci 2009 Jul;36(4):409-28. PMID: 19650351
Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B
Neurogenetics 2008 Jul;9(3):207-14. Epub 2008 May 9 doi: 10.1007/s10048-008-0131-7. PMID: 18465152Free PMC Article
Bouhlal Y, El-Euch-Fayeche G, Amouri R, Hentati F
Acta Myol 2005 Oct;24(2):155-61. PMID: 16550933

Diagnosis

Gazulla J, Mayayo-Sinués E, Benavente I, Modrego PJ, Berciano J
Can J Neurol Sci 2014 Jan;41(1):37-41. PMID: 24384335
Ichikawa Y, Ishiura H, Mitsui J, Takahashi Y, Kobayashi S, Takuma H, Kanazawa I, Doi K, Yoshimura J, Morishita S, Goto J, Tsuji S
J Neurol Sci 2013 Aug 15;331(1-2):158-60. Epub 2013 Jun 18 doi: 10.1016/j.jns.2013.05.018. PMID: 23786967
Régal L, Ebberink MS, Goemans N, Wanders RJ, De Meirleir L, Jaeken J, Schrooten M, Van Coster R, Waterham HR
Ann Neurol 2010 Aug;68(2):259-63. doi: 10.1002/ana.22035. PMID: 20695019
Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B
Neurogenetics 2008 Jul;9(3):207-14. Epub 2008 May 9 doi: 10.1007/s10048-008-0131-7. PMID: 18465152Free PMC Article
Gücüyener K, Ozgül K, Paternotte C, Erdem H, Prud'homme JF, Ozgüç M, Topaloğlu H
Neuropediatrics 2001 Jun;32(3):142-6. doi: 10.1055/s-2001-16616. PMID: 11521210

Therapy

Comeaux EQ, van Waardenburg RC
Drug Metab Rev 2014 Nov;46(4):494-507. Epub 2014 Oct 20 doi: 10.3109/03602532.2014.971957. PMID: 25327705
Mrissa N, Belal S, Hamida CB, Amouri R, Turki I, Mrissa R, Hamida MB, Hentati F
Neurology 2000 Apr 11;54(7):1408-14. PMID: 10751248

Prognosis

Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B
Neurogenetics 2008 Jul;9(3):207-14. Epub 2008 May 9 doi: 10.1007/s10048-008-0131-7. PMID: 18465152Free PMC Article
El Euch-Fayache G, Lalani I, Amouri R, Turki I, Ouahchi K, Hung WY, Belal S, Siddique T, Hentati F
Arch Neurol 2003 Jul;60(7):982-8. doi: 10.1001/archneur.60.7.982. PMID: 12873855
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

Clinical prediction guides

van Minkelen R, Guitart M, Escofet C, Yoon G, Elfferich P, Bolman GM, van der Helm R, van de Graaf R, van den Ouweland AM
BMC Med Genet 2015 Aug 19;16:61. doi: 10.1186/s12881-015-0213-y. PMID: 26285866Free PMC Article
Gazulla J, Mayayo-Sinués E, Benavente I, Modrego PJ, Berciano J
Can J Neurol Sci 2014 Jan;41(1):37-41. PMID: 24384335
Bouhlal Y, El-Euch-Fayeche G, Amouri R, Hentati F
Acta Myol 2005 Oct;24(2):155-61. PMID: 16550933
Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L
Hum Mol Genet 2005 Oct 15;14(20):2981-90. Epub 2005 Aug 31 doi: 10.1093/hmg/ddi328. PMID: 16135556
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

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