33. The Shadow Walker: Spinocerebellar Ataxia Type 33 (SCA33)
SCA33, often referred to as the Shadow Walker, is another variant of spinocerebellar ataxia where the exact genetic cause remains a mystery. However, it’s not the enigma that makes it stand apart—it’s the clinical presentation.
People with SCA33 typically show a slow progression of symptoms, which predominantly include coordination difficulties and dysarthria. However, the late adult onset and the symptom progression pattern are what differentiate it from its SCA siblings.
By embodying the underlying diversity within the SCA family, SCA33 underscores the pressing need for comprehensive research to decipher the underlying genetic causes of these conditions.
34. The Silent Fiddler: Spinocerebellar Ataxia Type 34 (SCA34)
SCA34, also known as the Silent Fiddler, is caused by mutations in the ELOVL4 gene, which plays a critical role in the production of specific fats in the body. When mutated, it leads to SCA34, presenting a unique blend of symptoms.
This condition typically emerges in adulthood, manifesting as unsteady gait, coordination problems, and a distinctive symptom—cutaneous syndromes like ichthyosis, a condition leading to dry, scaly skin. The presence of skin manifestations sets SCA34 apart from other types of SCAs.
Through its distinctive genetic origin and clinical features, SCA34 adds a unique dimension to our understanding of the Spinocerebellar Ataxias.
35. The Veiled Prophet: Spinocerebellar Ataxia Type 35 (SCA35)
Spinocerebellar Ataxia Type 35 (SCA35) is often termed the Veiled Prophet due to its genetic origin being linked to the TGM6 gene, which encodes an enzyme involved in protein modifications. When mutated, it disrupts these vital processes, resulting in SCA35.
Symptoms of SCA35 may begin in early adulthood, with the presentation including coordination difficulties, unsteady gait, and dysarthria. However, it’s the slow progression and late onset that differentiate SCA35 within the SCA family.
With its unique onset age, symptom progression, and genetic basis, SCA35 offers another perspective into the vast clinical and genetic variations within the Spinocerebellar Ataxias.
36. The Solitary Wanderer: Spinocerebellar Ataxia Type 36 (SCA36)
SCA36, the Solitary Wanderer, arises from mutations in the NOP56 gene, crucial for the production of ribosomes, the protein factories within cells. When this gene is mutated, it disrupts these essential processes, leading to SCA36.
SCA36 typically appears in mid to late adulthood, with symptoms encompassing coordination difficulties, gait abnormalities, and muscle twitches (fasciculations). Interestingly, affected individuals may also show a loss of hearing and the ability to enunciate words clearly (dysarthria), distinguishing SCA36 from other SCAs.
Through its unique genetic origin and clinical presentation, SCA36 further diversifies the spectrum of Spinocerebellar Ataxias. (9)
