Spinocerebellar Ataxia 38

Clinical Characteristics
Ocular Features: 

Gaze-evoked nystagmus is present with the onset of ataxia.  Some patients report diplopia.  Saccadic movements are described as slow.  Visual acuities and the appearance of the retina and optic nerve have not been reported.

Systemic Features: 

Truncal and gait ataxia are generally evident by age 40 years and progressively worsen.  Mobility requires assistance usually by age 50.  Mild sensory complaints are present in the majority of individuals.  Dysarthria is often a feature.

MRI reveals cerebellar atrophy with no evidence of brainstem involvement.

Genetics

Heterozygous mutations in the ELOVL5 gene (6p12.1) are responsible for this autosomal dominant disorder.  The gene is a member of family that encodes elongases that synthesize long chain fatty acids in the endoplasmic reticulum.

Treatment
Treatment Options: 

None known.

References
Article Title: 

ELOVL5 mutations cause spinocerebellar ataxia 38

Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A. ELOVL5 mutations cause spinocerebellar ataxia 38. Am J Hum Genet. 2014 Aug 7;95(2):209-17.

PubMed ID: 
25065913

References

Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A. ELOVL5 mutations cause spinocerebellar ataxia 38. Am J Hum Genet. 2014 Aug 7;95(2):209-17.

PubMedID: 25065913