T8993C-F6

**Figure 1\. Pedigree diagram for family T8993C\-F6\.**

![](/media/202606/T8993C-F6-pedigree_20260630233910512680.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 | 8993 | m.8993T\>C | T8993C\-F6 | UK | Adult\-onset ataxia and polyneuropathy; episodic ataxia | 0 | 2 | 2007 | [18055910](https://pubmed.ncbi.nlm.nih.gov/18055910/) |  |

The **m.8993T\>C** variant in MT\-ATP6 was reported in family T8993C\-F6 from UK with adult\-onset ataxia and polyneuropathy; episodic ataxia. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was adult\-onset gait ataxia, cerebellar dysarthria, nystagmus, mild axonal sensorimotor neuropathy, cerebellar atrophy, intermittent speech and gait disturbance, childhood hemipareses, headaches.

# 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 | 8993 | m.8993T\>C | T8993C\-F6 | T8993C\-F6\-I1 | Uninf | F | N | Y | A | 76 y | 86% | / | / | / | Adult\-onset gait ataxia, cerebellar dysarthria, nystagmus, mild axonal sensorimotor neuropathy, cerebellar atrophy |  |
| 2 | 8993 | m.8993T\>C | T8993C\-F6 | T8993C\-F6\-II1 | Fam | F | Y | Y | A | 50 y | 82% | / | / | / | Intermittent speech and gait disturbance, childhood hemipareses, headaches, neuropathy, ataxic gait |  |
| 3 | 8993 | m.8993T\>C | T8993C\-F6 | T8993C\-F6\-III1 | Fam | F | N | Y | A | 25 y | 83% | / | / | / | Episodic gait disturbance, progressive dysarthria, optic atrophy, axonal sensorimotor neuropathy, cerebellar atrophy |  |

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