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Autosomal recessive ataxia, Beauce type(ARCA1; SCAR8)

MedGen UID:
343973
•Concept ID:
C1853116
•
Disease or Syndrome
Synonyms: ATAXIA, RECESSIVE, OF BEAUCE; Spinocerebellar ataxia, autosomal recessive 8; SYNE1-Related Autosomal Recessive Cerebellar Ataxia
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).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): SYNE1 (6q25.2)
 
Monarch Initiative: MONDO:0012549
OMIM®: 610743
Orphanet: ORPHA88644

Definition

SYNE1 deficiency comprises a phenotypic spectrum that ranges from autosomal recessive cerebellar ataxia at the mild end to arthrogryposis multiplex congenita (AMC) at the severe end. SYNE1-deficient cerebellar ataxia, the most commonly recognized manifestation of SYNE1 deficiency to date, is a slowly progressive disorder typically beginning in adulthood (age range 6-45 years). While some individuals have a pure cerebellar syndrome (i.e., cerebellar ataxia, dysarthria, dysmetria, abnormalities in ocular saccades and smooth pursuit), many also have upper motor neuron dysfunction (spasticity, hyperreflexia, Babinski sign) and/or lower motor neuron dysfunction (amyotrophy, reduced reflexes, fasciculations). Most individuals develop features of the cerebellar cognitive and affective syndrome (i.e., significant deficits in attention, executive functioning, verbal working memory, and visuospatial/visuoconstructional skills). The two less common phenotypes are SYNE1-deficient childhood-onset multisystem disease (ataxia, upper and lower motor neuron dysfunction, muscle weakness and wasting, intellectual disability) and SYNE1-deficient arthrogryposis multiplex congenita (decreased fetal movements and severe neonatal hypotonia associated with multiple congenital joint contractures including clubfoot). [from GeneReviews]

Additional descriptions

From OMIM
Autosomal recessive spinocerebellar ataxia-8 (SCAR8) is a slowly progressive neurodegenerative disorder characterized by gait ataxia and other cerebellar signs, such as nystagmus and dysarthria. The age at onset is highly variable, and but most often is in the second or third decades. The disorder was initially identified in patients of French Canadian descent, most of whom have a relatively 'pure' form of the disorder. However, subsequent studies have shown that SCAR8 occurs worldwide and most commonly manifests with additional features, including spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies, consistent with a 'complicated' phenotype. Brain imaging typically shows cerebellar atrophy, sometimes with pontine involvement. Rare patients may have an early-onset multisystemic disorder with impaired intellectual development and respiratory dysfunction (summary by Synofzik et al., 2016).  http://www.omim.org/entry/610743
From MedlinePlus Genetics
Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with the eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair.  https://medlineplus.gov/genetics/condition/autosomal-recessive-cerebellar-ataxia-type-1

Clinical features

From HPO
Pes cavus
MedGen UID:
675590
•Concept ID:
C0728829
•
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
See: Feature record | Search on this feature
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
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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.
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Abnormal autonomic nervous system physiology
MedGen UID:
8511
•Concept ID:
C0013363
•
Disease or Syndrome
A functional abnormality of the autonomic nervous system.
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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.
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Abnormality of extrapyramidal motor function
MedGen UID:
115941
•Concept ID:
C0234133
•
Sign or Symptom
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
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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.
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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.
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Limb ataxia
MedGen UID:
196692
•Concept ID:
C0750937
•
Finding
A kind of ataxia that affects movements of the extremities.
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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.
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Peripheral axonal neuropathy
MedGen UID:
266071
•Concept ID:
C1263857
•
Disease or Syndrome
An abnormality characterized by disruption of the normal functioning of peripheral axons.
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Lower limb hyperreflexia
MedGen UID:
322973
•Concept ID:
C1836696
•
Finding
See: Feature record | Search on this feature
Kyphosis
MedGen UID:
44042
•Concept ID:
C0022821
•
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
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Scoliosis
MedGen UID:
11348
•Concept ID:
C0036439
•
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
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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).
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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.
See: Feature record | Search on this feature
Optic atrophy
MedGen UID:
18180
•Concept ID:
C0029124
•
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
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Strabismus
MedGen UID:
21337
•Concept ID:
C0038379
•
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
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Jerky ocular pursuit movements
MedGen UID:
342908
•Concept ID:
C1853558
•
Finding
See: Feature record | Search on this feature
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Term Hierarchy

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

Recent clinical studies

Etiology

SYNE1 mutations in autosomal recessive cerebellar ataxia.
Noreau A, Bourassa CV, Szuto A, Levert A, Dobrzeniecka S, Gauthier J, Forlani S, Durr A, Anheim M, Stevanin G, Brice A, Bouchard JP, Dion PA, Dupré N, Rouleau GA
JAMA Neurol 2013 Oct;70(10):1296-31. doi: 10.1001/jamaneurol.2013.3268. PMID: 23959263

Diagnosis

Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient.
Valentina Castillo J, Catherine Díaz S, Bustamante ML, Ferreira MG, Teive HAG, Miranda M
Cerebellum 2021 Dec;20(6):938-941. Epub 2021 Mar 2 doi: 10.1007/s12311-021-01250-x. PMID: 33651373
Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family.
Algahtani H, Marzouk Y, Algahtani R, Salman S, Shirah B
J Neurol Sci 2017 Jan 15;372:97-100. Epub 2016 Nov 17 doi: 10.1016/j.jns.2016.11.036. PMID: 28017257

Clinical prediction guides

Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family.
Algahtani H, Marzouk Y, Algahtani R, Salman S, Shirah B
J Neurol Sci 2017 Jan 15;372:97-100. Epub 2016 Nov 17 doi: 10.1016/j.jns.2016.11.036. PMID: 28017257

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