G8572A-F1

**Figure 1\. Pedigree diagram for family G8572A\-F1\.**

![](/media/202606/20260630140900631265.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8572 | m.8572G\>A | G8572A\-F1 | Germany | Adult\-onset spinocerebellar ataxia | 0 | 0 | 2021 | [34037856](https://pubmed.ncbi.nlm.nih.gov/34037856/) |  |

The **m.8572G\>A** variant in MT\-ATP8/6 was reported in family G8572A\-F1 from Germany with adult\-onset spinocerebellar ataxia. The pedigree record reported 0 unaffected and 0 affected maternal relatives, and the carrier table includes 1 listed carriers. Homoplasmy was reported in all listed carriers; 1/1 carriers were affected, and the main clinical manifestation among affected carriers was adult\-onset spinocerebellar ataxia, mild gait ataxia, dysmetria, dysarthria, restless legs syndrome, global brain atrophy including cerebellum.

# 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 | 8572 | m.8572G\>A | G8572A\-F1 | G8572A\-F1\-II1 | Uninf | F | Y | Y | A | 75 | Homo | / | / | / | Adult\-onset spinocerebellar ataxia; mild gait ataxia; dysmetria; dysarthria; restless legs syndrome; global brain atrophy including cerebellum |  |

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