Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the SPG7 gene

Alexander Garbin
Alexander Garbin
Beth E Fisher
Beth E Fisher
Brent Fogel
Brent Fogel
Kecia Watari Knoell
Kecia Watari Knoell
Jessica E Rexach
Jessica E Rexach

NEUROCASE, pp. 299-304, 2020.

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Abstract:

We report a patient with autism-like deficits in emotional connectedness, executive dysfunction, and ataxia beginning at age 39. He had compound heterozygous variants in SPG7 (A510V and 1552+1 G>T substitutions), mutation of which is classically associated with spastic paraparesis. Diffusion MRI demonstrated abnormalities in the cerebella...More

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