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“SPTBN2 in SCA5 & SCAR14”, Victor McKusick, Mendelian Inheritance in Man, 1966. (SPTBN2)

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Genomic coordinate (human 11:66,682,497 SPTBN2).

Cytoband  (human 11q13.2 SPTBN2).

Here I  🎁 present: “SPTBN2 in SCA5 &SPTBN2 SCAR14“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (SPTBN2)

 

INTRODUCTION.
A single gene (SPTBN2) leads to two distinct neurological disorders that converge on the same clinical outcome.
🧬 The Genetic Foundation
Gene: SPTBN2 (encodes 
-spectrin protein).
Location: Cytoband 11q13.2.
Target: Cerebellar Purkinje cells.
🧭 Two Divergent Disease Pathways
The topological surface maps two separate routes based on inheritance and mutation type:
SCA5 (Orange Path)
Disease: Spinocerebellar Ataxia Type 5.
Inheritance: Autosomal Dominant (AD).
Mechanism: Gain-of-function / toxic dominant effect.
Trajectory: Governed primarily by structural disruption 
SCAR14 (Blue Path)
Disease: Spinocerebellar Ataxia Autosomal Recessive 14.
Inheritance: Autosomal Recessive (AR).
Mechanism: Loss-of-function effect.
Trajectory: Governed primarily by expression/function changes 
Both distinct paths ultimately drop into the same valley of high phenotypic severity.

 

 

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