C8578T-F1

**Figure 1\. Pedigree diagram for family C8578T\-F1\.**

![](/media/202607/C8578T-F1-pedigree_20260701003635100962.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8578 | m.8578C\>T | C8578T\-F1 | Germany | Spinocerebellar ataxia | 3 | 2 | 2021 | [34037856](https://pubmed.ncbi.nlm.nih.gov/34037856/) |  |

The **m.8578C\>T** variant in MT\-ATP6 was reported in family C8578T\-F1 from Germany with spinocerebellar ataxia. The pedigree record reported 3 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was generalized dystonia, dysarthria, dysphagia, mild psychomotor developmental delay, gait ataxia, postural instability.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8578 | m.8578C\>T | C8578T\-F1 | C8578T\-F1\-II1 | Fam | M | N | Y | A | 65 | Homo | / | / | / | generalized dystonia; dysarthria; dysphagia; mild psychomotor developmental delay |  |
| 2 | 8578 | m.8578C\>T | C8578T\-F1 | C8578T\-F1\-II2 | Fam | M | Y | Y | A | 63 | Homo | / | / | / | gait ataxia; postural instability; dysarthria |  |
| 3 | 8578 | m.8578C\>T | C8578T\-F1 | C8578T\-F1\-II4 | Fam | F | N | N | A | 48 | Homo | / | / | / | Healthy |  |

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