Spinocerebellar Degeneration With Slow Eye Movements

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

ATXN2, ATXN1, GRM1, CACNA1A, ATXN7, CACNA1G, CWF19L1, SPTBN2, RBM17, UBA5, TRPC3, ELOVL5, RUBCN, SCYL1, STUB1, NOP56, AFG3L2, CIC, TDP2, WWOX, SNX14, ANO10, PRKCG, SYT14, CCDC88C, FOXC1, GFI1, GRID2, TGM6, PPP2R2B, MME, ATXN1L, VWA3B, TTBK2, ATXN3, LY6E, TSHZ1, RAI1, TARDBP, SOD1, SLC6A3, HPGDS, IGFALS, SLCO6A1, GSTK1, SEPTIN3, PINK1, SAR1A, RGS8, JPH3, PLB1, TRPV4, GSTO2, ACTB, REM1, CIT, CAT, FAP, ITPR1, LHCGR, MTHFR, PAH, PRKN, PLA2G1B, SDHC, SLC18A2, SOD3, STAU1, TBP, TPO, YWHAZ, ZFYVE9, GSTO1, APP, HDAC9, ATXN2-AS

Drugs

Acetylleucine, Ceftriaxone, Trans-resveratrol

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Clinical Features

Al-Din et al. (1990) described an Arab family of Palestinian origin in Kuwait with an autosomal recessive form of spinocerebellar degeneration with slow eye movements. Previously reported cases were either sporadic or of autosomal dominant inheritance (see Wadia-Swami syndrome, 183090). Associated features included progressive intellectual impairment and extrapyramidal dysfunction as well as peripheral neuropathy and skeletal abnormalities. Muscle biopsy showed nonspecific mitochondrial abnormalities. The pedigree showed 3 affected males and 3 affected females in 2 sibships, both with consanguineous parents and at least one common ancestral couple. The progress of the disorder was slower than that in the Wadia-Swami syndrome; a severe disability was reached in 10 to 15 years, but even at that stage the main disability was that of gait and patients managed to live with minimal help except for walking.

Inheritance

The transmission pattern of spinocerebellar degeneration with slow eye movements in the family reported by Al-Din et al. (1990) was consistent with autosomal recessive inheritance.