T9185C-F16

**Figure 1\. Pedigree diagram for family T9185C\-F16\.**

![](/media/202607/T9185C-F16-pedigree_20260701005012596095.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 | 9185 | m.9185T\>C | T9185C\-F16 | UK | Adult\-onset spinocerebellar syndrome | 1 | 4 | 2012 | [22577227](https://pubmed.ncbi.nlm.nih.gov/22577227/) | Family A |

The **m.9185T\>C** variant in MT\-ATP6 was reported in family T9185C\-F16 from UK with adult\-onset spinocerebellar syndrome. The pedigree record reported 1 unaffected and 4 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was ataxia, saccade dysmetria, proximal myopathy, cognitive impairment, sensorimotor axonal neuropathy., slow extraocular movements, optic pallor, dysarthria.

# 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 | 9185 | m.9185T\>C | T9185C\-F16 | T9185C\-F16\-I1 | Fam | M | Y | Y | A | 58 | / | 98% | / | / | Ataxia; saccade dysmetria; proximal myopathy; cognitive impairment; sensorimotor axonal neuropathy. |  |
| 2 | 9185 | m.9185T\>C | T9185C\-F16 | T9185C\-F16\-I2 | Fam | F | N | Y | A | 55 | 99% | / | / | / | Ataxia; slow extraocular movements; optic pallor; dysarthria; spasticity; dystonia; sensorimotor axonal neuropathy. |  |
| 3 | 9185 | m.9185T\>C | T9185C\-F16 | T9185C\-F16\-I3 | Fam | M | N | Y | A | 51 | 99% | / | / | / | Ataxia; dysarthria; broken ocular pursuit; distal leg atrophy; pyramidal signs; pes cavus; motor axonal neuropathy. |  |
| 4 | 9185 | m.9185T\>C | T9185C\-F16 | T9185C\-F16\-I5 | Fam | F | N | Y | A | 43 | 95% | / | / | / | Ataxia; dysarthria; short stature; distal weakness with foot drop; extensor plantar reflexes; sensorimotor axonal neuropathy. |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).